| D004476 |
Ectodermal Dysplasia |
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita. |
Anhidrotic Ectodermal Dysplasia,Aplasia Cutis Congenita,Clouston's Syndrome,Ectodermal Defect, Congenital,Hidrotic Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasia,Aplasia Cutis Congenita, Nonsyndromic,Autosomal Dominant Hidrotic Ectodermal Dysplasia,Clouston Hidrotic Ectodermal Dysplasia,Clouston Syndrome,Clouston's Hidrotic Ectodermal Dysplasia,Congenital Ectodermal Defect,Defect, Congenital Ectodermal,Ectodermal Dysplasia 2, Hidrotic,Ectodermal Dysplasia Anhidrotic,Ectodermal Dysplasia, Anhydrotic,Ectodermal Dysplasia, Hidrotic,Ectodermal Dysplasia, Hidrotic, Autosomal Dominant,Hidrotic Ectodermal Dysplasia, Autosomal Dominant,Hydrotic Ectodermal Dysplasia,Anhidrotic Ectodermal Dysplasias,Anhidrotic, Ectodermal Dysplasia,Anhidrotics, Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasias,Cloustons Syndrome,Congenital Ectodermal Defects,Defects, Congenital Ectodermal,Dysplasia Anhidrotic, Ectodermal,Dysplasia Anhidrotics, Ectodermal,Dysplasia, Anhidrotic Ectodermal,Dysplasia, Anhydrotic Ectodermal,Dysplasia, Ectodermal,Dysplasia, Hidrotic Ectodermal,Dysplasia, Hydrotic Ectodermal,Dysplasias, Anhidrotic Ectodermal,Dysplasias, Anhydrotic Ectodermal,Dysplasias, Ectodermal,Dysplasias, Hidrotic Ectodermal,Dysplasias, Hydrotic Ectodermal,Ectodermal Defects, Congenital,Ectodermal Dysplasia, Anhidrotic,Ectodermal Dysplasia, Hydrotic,Ectodermal Dysplasias,Ectodermal Dysplasias, Anhidrotic,Ectodermal Dysplasias, Anhydrotic,Ectodermal Dysplasias, Hydrotic,Hidrotic Ectodermal Dysplasias,Hydrotic Ectodermal Dysplasias,Syndrome, Clouston,Syndrome, Clouston's |
|
| D006197 |
Hair |
A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body. |
Fetal Hair,Hair, Fetal,Lanugo,Fetal Hairs,Hairs,Hairs, Fetal |
|
| D006201 |
Hair Diseases |
Diseases affecting the orderly growth and persistence of hair. |
Hair Disease |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D046169 |
Dermoscopy |
A noninvasive technique that enables direct microscopic examination of the surface and architecture of the SKIN. |
Dermatoscopy,Epiluminescence Microscopy,Skin Surface Microscopy,Dermatoscopies,Dermoscopies,Epiluminescence Microscopies,Microscopies, Epiluminescence,Microscopies, Skin Surface,Microscopy, Epiluminescence,Microscopy, Skin Surface,Skin Surface Microscopies,Surface Microscopies, Skin,Surface Microscopy, Skin |
|
| D054463 |
Trichothiodystrophy Syndromes |
Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene. |
Amish Brittle Hair Brain Syndrome,Amish Brittle Hair Syndrome,BIDS Syndrome,Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome,Hair-Brain Syndrome,IBIDS Syndrome,Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation,Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature,PIBIDS Syndrome,Photosensitive Trichothiodystrophy,Tay Syndrome,Trichothiodystrophy,Trichothiodystrophy with Congenital Ichtyosis,Trichothiodystrophy, Nonphotosensitive 1,Trichothiodystrophy, Photosensitive,BIDS Syndromes,Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome,Hair Brain Syndrome,Hair-Brain Syndromes,IBIDS Syndromes,PIBIDS Syndromes,Photosensitive Trichothiodystrophies,Trichothiodystrophies,Trichothiodystrophies, Nonphotosensitive 1,Trichothiodystrophies, Photosensitive,Trichothiodystrophy Syndrome |
|
| D056734 |
Monilethrix |
Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix. |
Nodose Hair,Hair, Nodose,Hairs, Nodose,Monilethrices,Nodose Hairs |
|
| D056770 |
Netherton Syndrome |
Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene. |
Netherton Disease |
|
| D018859 |
Hair Follicle |
A tube-like invagination of the EPIDERMIS from which the hair shaft develops and into which SEBACEOUS GLANDS open. The hair follicle is lined by a cellular inner and outer root sheath of epidermal origin and is invested with a fibrous sheath derived from the dermis. (Stedman, 26th ed) Follicles of very long hairs extend into the subcutaneous layer of tissue under the SKIN. |
Follicle, Hair,Follicles, Hair,Hair Follicles |
|