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68 relations: ABCA12, ABHD5, ALOX12B, ALOXE3, American Bulldog, Anosmin-1, Autosome, Cairn Terrier, Ceramide synthase 3, CHILD syndrome, Congenital ichthyosiform erythroderma, Conradi–Hünermann syndrome, Cornea, Cutaneous condition, CYP4F22, Dermatology, Dog, Dog breed, Dominance (genetics), Emopamil binding protein, Epidermolytic hyperkeratosis, ERCC2, Filaggrin, Gaucher's disease, Genetic disorder, GJB2, Glucocerebrosidase, Golden Retriever, Greek language, GTF2H5, Harlequin-type ichthyosis, Heterogeneous condition, Ichthyosis acquisita, Ichthyosis bullosa of Siemens, Ichthyosis follicularis with alopecia and photophobia syndrome, Ichthyosis hystrix, Ichthyosis vulgaris, Ichthyosis with confetti, Jack Russell Terrier, Kallmann syndrome, Keratin, Keratin 1, Keratin 10, Keratin 2A, Keratinocyte transglutaminase, Keratitis, Keratitis–ichthyosis–deafness syndrome, Lamellar ichthyosis, LEKTI, List of cutaneous conditions, ..., List of cutaneous neoplasms associated with systemic syndromes, Long-chain-aldehyde dehydrogenase, Membrane-bound transcription factor site-2 protease, Moisturizer, Netherton syndrome, Neutral lipid storage disease, Online Mendelian Inheritance in Man, Peroxin-7, Phytanoyl-CoA dioxygenase, Refsum disease, Retinoid, Rud syndrome, Sex linkage, Sjögren–Larsson syndrome, Steroid sulfatase, Trichothiodystrophy, X-linked ichthyosis, XPB. Expand index (18 more) »
ABCA12
ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.
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ABHD5
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an enzyme that in humans is encoded by the ABHD5 gene.
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ALOX12B
Arachidonate 12-lipoxygenase, 12R type, also known as ALOX12B, 12R-LOX, and arachiconate lipoygenase 3, is a lipoxygenase-type enzyme composed of 701 amino acids and encoded by the ALOX12B gene.
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ALOXE3
Epidermis-type lipoxygenase 3 (ALOXE3 or eLOX3) is a member of the lipoxygenase family of enzymes; in humans, it is encoded by the ALOXE3 gene.
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American Bulldog
The American Bulldog is a breed of utility dog descended from the Old English Bulldog.
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Anosmin-1
Anosmin-1 is a secreted, EM associated glycoprotein found in humans and other organisms responsible for normal development, which is expressed in the brain, spinal cord and kidney.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Cairn Terrier
The Cairn Terrier is one of the oldest terrier breeds, originating in the Scottish Highlands and recognized as one of Scotland's earliest working dogs.
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Ceramide synthase 3
Ceramide synthase 3 (CersS3), also known as longevity assurance homologue 3, is an enzyme that is encoded in humans by the CERS3 gene.
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CHILD syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.
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Congenital ichthyosiform erythroderma
Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform erythrodermaFreedberg, et al.
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Conradi–Hünermann syndrome
Conradi–Hünermann syndrome (also known as "Conradi–Hünermann–Happle syndrome", "Happle syndrome," and "X-linked dominant chondrodysplasia punctata") is a type of chondrodysplasia punctata.
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Cornea
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber.
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Cutaneous condition
A cutaneous condition is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, hair, nails, and related muscle and glands.
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CYP4F22
CYP4F22 (cytochrome P450, family 4, subfamily F, polypeptide 22) is a protein that in humans is encoded by the CYP4F22 gene.
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Dermatology
Dermatology (from ancient Greek δέρμα, derma which means skin and λογία, logia) is the branch of medicine dealing with the skin, nails, hair and its diseases.
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Dog
The domestic dog (Canis lupus familiaris when considered a subspecies of the gray wolf or Canis familiaris when considered a distinct species) is a member of the genus Canis (canines), which forms part of the wolf-like canids, and is the most widely abundant terrestrial carnivore.
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Dog breed
Dog breeds are dogs that have relatively uniform physical characteristics developed under controlled conditions by humans, with breeding animals selected for phenotypic traits such as size, coat color, structure, and behavior.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Emopamil binding protein
EBP is a gene associated with Conradi-Hünermann syndrome.
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Epidermolytic hyperkeratosis
Epidermolytic ichthyosis (EI), (also known as "epidermolytic hyperkeratosis (EHK)", "bullous congenital ichthyosiform erythroderma (BCIE), bullous ichthyosiform erythroderma,Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill.. or bullous congenital ichthyosiform erythroderma Brocq) is a rare and severe form of ichthyosis this skin disease affects around 1 in 300,000 people.
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ERCC2
ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.
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Filaggrin
Filaggrin (filament aggregating protein) is a filament-associated protein that binds to keratin fibers in epithelial cells.
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Gaucher's disease
Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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GJB2
Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.
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Glucocerebrosidase
β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells).
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Golden Retriever
The Golden Retriever is a large-sized breed of dog bred as gun dogs to retrieve shot waterfowl such as ducks and upland game birds during hunting and shooting parties, and were named 'retriever' because of their ability to retrieve shot game undamaged (soft mouth).
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Greek language
Greek (Modern Greek: ελληνικά, elliniká, "Greek", ελληνική γλώσσα, ellinikí glóssa, "Greek language") is an independent branch of the Indo-European family of languages, native to Greece and other parts of the Eastern Mediterranean and the Black Sea.
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GTF2H5
General transcription factor IIH subunit 5 is a protein that in humans is encoded by the GTF2H5 gene.
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Harlequin-type ichthyosis
Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire body at birth.
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Heterogeneous condition
Heterogeneous medical condition in medicine are those medical conditions which have several etiologies, like hepatitis or diabetes.
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Ichthyosis acquisita
Ichthyosis acquisita (or "acquired ichthyosis") is a disorder clinically and histologically similar to ichthyosis vulgaris.
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Ichthyosis bullosa of Siemens
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.
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Ichthyosis follicularis with alopecia and photophobia syndrome
IFAP syndrome is an extremely rare genetic syndrome.
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Ichthyosis hystrix
Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales.
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Ichthyosis vulgaris
Ichthyosis vulgaris (also known as "Autosomal dominant ichthyosis," and "Ichthyosis simplex") is a skin disorder causing dry, scaly skin.
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Ichthyosis with confetti
Ichthyosis en confetti, also known as ichthyosis with confetti, congenital reticular ichthyosiform erythroderma (CRIE) and ichthyosis variegata, is a very rare form of congenital ichthyosis in which healthy patches of normal skin co-exist within the abnormal skin areas.
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Jack Russell Terrier
The Jack Russell Terrier is a small terrier that has its origins in fox hunting.
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Kallmann syndrome
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty.
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Keratin
Keratin is one of a family of fibrous structural proteins.
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Keratin 1
Keratin 1 is a member of the keratin family.
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Keratin 10
Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene.
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Keratin 2A
Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene.
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Keratinocyte transglutaminase
Protein-glutamine gamma-glutamyltransferase K is an enzyme that in humans is encoded by the TGM1 gene.
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Keratitis
Keratitis is a condition in which the eye's cornea, the clear dome on the front surface of the eye, becomes inflamed.
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Keratitis–ichthyosis–deafness syndrome
Keratitis–ichthyosis–deafness syndrome (also known as "Erythrokeratodermia progressiva Burns," "Ichthyosiform erythroderma, corneal involvement, and deafness," and "KID syndrome,") presents at birth/infancy and is characterized by pregressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.
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Lamellar ichthyosis
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
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LEKTI
Lympho-epithelial Kazal-type-related inhibitor (LEKTI) also known as serine protease inhibitor Kazal-type 5 (SPINK5) is a protein that in humans is encoded by the SPINK5 gene.
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List of cutaneous conditions
Many conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands.
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List of cutaneous neoplasms associated with systemic syndromes
Many cutaneous neoplasms occur in the setting of systemic syndromes.
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Long-chain-aldehyde dehydrogenase
Fatty aldehyde dehydrogenase (or Long-chain-aldehyde dehydrogenase) is an aldehyde dehydrogenase enzyme that in human is encoded in the ALDH3A2 gene on chromosome 17.
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Membrane-bound transcription factor site-2 protease
Membrane-bound transcription factor site-2 protease, or site-2 protease (S2P) for short, is an enzyme encoded by the gene which liberates the N-terminal fragment of sterol regulatory element-binding protein (SREBP) transcription factors from membranes.
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Moisturizer
Moisturizers or emollients are complex mixtures of chemical agents (often occlusives help hold water in the skin after application, humectants attract moisture and emollients help smooth the skin.) specially designed to make the external layers of the skin (epidermis) softer and more pliable.
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Netherton syndrome
Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the SPINK5 gene.
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Neutral lipid storage disease
Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
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Online Mendelian Inheritance in Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.
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Peroxin-7
Peroxin-7 is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1.
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Phytanoyl-CoA dioxygenase
In enzymology, a phytanoyl-CoA dioxygenase is an enzyme that catalyzes the chemical reaction The three substrates of this enzyme are phytanoyl-CoA, 2-oxoglutarate (2OG), and O2, whereas its three products are 2-hydroxyphytanoyl-CoA, succinate, and CO2.
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Refsum disease
Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues.
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Retinoid
The retinoids are a class of chemical compounds that are vitamers of vitamin A or are chemically related to it.
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Rud syndrome
Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance, named after Einar Rud who described 2 patients with the case in 1927 and 1929.
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Sex linkage
Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual.
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Sjögren–Larsson syndrome
Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.
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Steroid sulfatase
Steroid sulfatase (STS), or steryl-sulfatase, formerly known as arylsulfatase C, is a sulfatase enzyme involved in the metabolism of steroids.
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Trichothiodystrophy
Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment.
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X-linked ichthyosis
X-linked ichthyosis (XLI) (also known as ") is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males.
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XPB
XPB (xeroderma pigmentosum type B) is an ATP-dependent DNA helicase in humans that is a part of the TFIIH transcription factor complex.
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Congenital ichthyosis, Follicular ichthyosis, Ichthyoses, Ichtyosis, Ichythyosis, Icthyosis.
References
[1] https://en.wikipedia.org/wiki/Ichthyosis
