About: dominant dystrophic epidermolysis bullosa

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human disease

Attributes	Values
rdf:type	Item
owl:sameAs	dominant dystrophic epidermolysis bullosa
description	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q5290299-20390B4D-0221-4AC9-A1D2-1F0FF7F24042 wds:Q5290299-7B52DF5F-08A2-4DD4-89FC-16FA4617A2A7
exact match	http://identifiers.org/doid/DOID:0080224 http://purl.obolibrary.org/obo/DOID_0080224
DiseasesDB	wds:q5290299-E664A6C8-F0BE-403C-AA03-D4ACFD97C780
Disease Ontology ID	wds:Q5290299-0523CD59-8955-4550-9B5A-99839778BDCE
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080224
DiseasesDB	33249
Disease Ontology ID	DOID:0080224
rdfs:label	dominant dystrophic epidermolysis bullosa (en) dominantna distrofična bulozna epidermoliza (sl) épidermolyse bulleuse dystrophique dominante (fr) انحلال البشرة الفقاعي الحثلي السائد (ar)
skos:prefLabel	dominant dystrophic epidermolysis bullosa (en) dominantna distrofična bulozna epidermoliza (sl) épidermolyse bulleuse dystrophique dominante (fr) انحلال البشرة الفقاعي الحثلي السائد (ar)
name	dominant dystrophic epidermolysis bullosa (en) dominantna distrofična bulozna epidermoliza (sl) épidermolyse bulleuse dystrophique dominante (fr) انحلال البشرة الفقاعي الحثلي السائد (ar)
instance of	wds:Q5290299-0630EEF4-CCCD-4FBF-93C7-E6416DDB9164
instance of	class of disease
subclass of	wds:Q5290299-055eb582-4a33-3572-638b-a0d403df9b23 wds:Q5290299-21b9b9e7-4178-e56b-4189-369a4b346641
subclass of	epidermolysis bullosa dystrophica autosomal dominant disease
GARD rare disease ID	wds:Q5290299-11C27DA2-8BF4-4F9E-8F0A-41DBA28650EE
OMIM ID	wds:Q5290299-BC9F8993-77C2-4723-8779-1B6116C57E3F
GARD rare disease ID	2139
OMIM ID	131750
skos:altLabel	Cockayne-Touraine disease (en) Cockayne-Touraine+disease (en) Cockayne-Tourainova bolezen (sl) autosomal dominant dystrophic epidermolysis bullosa (en)
on focus list of Wikimedia project	wds:Q5290299-661EE57A-7128-418A-8A13-40BB1C456CDA
ICD-11 (foundation)	wds:Q5290299-0EF1CA4D-BA58-4A08-9782-91B49F879B78
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 (foundation)	1840670133
is owl:sameAs of	dominant dystrophic epidermolysis bullosa dominant dystrophic epidermolysis bullosa
is about of	dominant dystrophic epidermolysis bullosa https://www.wikidata.org/wiki/Special:EntityData/Q5290299 Dominant dystrophic epidermolysis bullosa https://ar.wikipedia.org/wiki/%D8%A7%D9%86%D8%AD%D9%84%D8%A7%D9%84_%D8%A7%D9%84%D8%A8%D8%B4%D8%B1%D8%A9_%D8%A7%D9%84%D9%81%D9%82%D8%A7%D8%B9%D9%8A_%D8%A7%D9%84%D8%AD%D8%AB%D9%84%D9%8A_%D8%A7%D9%84%D8%B3%D8%A7%D8%A6%D8%AF
is subclass of of	Generalized dominant dystrophic epidermolysis bullosa epidermolysis bullosa with congenital localized absence of skin and deformity of nails
is subclass of of	wds:Q29982049-22a36bb1-43db-7ed7-9a36-3b7d6ce372ed wds:Q102293868-8BA238E0-DAC7-41DD-A249-452F1D557D90
is main subject of	Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa Hemorrhagic, bullous Henoch Schonlein purpura in a 16-year-old girl with previously undiagnosed dominant dystrophic epidermolysis bullosa Increased glycosaminoglycan accumulation as a genetic characteristic in cell cultures of one variety of dominant dystrophic epidermolysis bullosa Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect Dominant dystrophic epidermolysis bullosa with intraepidermal type VII collagen siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine in father and son: clinical and ultrastructural similarities A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosa Glycosaminoglycans production by cultured skin fibroblasts from the Pasini and Cockayne-Touraine forms of dominant dystrophic epidermolysis bullosa A new glycine substitution mutation in the COL7A1 gene in a Chinese family with dominant dystrophic epidermolysis bullosa Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1) A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. Management of generalized pruritus in dominant dystrophic epidermolysis bullosa using low-dose oral cyclosporin The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa Large deletions targeting the triple-helical domain of collagen VII lead to mild acral dominant dystrophic epidermolysis bullosa. Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary. Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa IgA nephropathy in a patient with dominant dystrophic epidermolysis bullosa Diffuse membranoproliferative glomerulonephritis with focal sclerosis and renal amyloidosis in an adult male with autosomal dominant dystrophic epidermolysis bullosa: a case report A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. The Cockayne-Touraine type of dominant dystrophic epidermolysis bullosa--ultrastructural similarities to the Pasini variant Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. A Japanese case of de novo dominant dystrophic epidermolysis bullosa Localised de novo dominant dystrophic epidermolysis bullosa

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