Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT

Synonyms

ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA

ID

http://purl.bioontology.org/ontology/OMIM/131750

altLabel

ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA

EBDCT

DDEB

EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE

EBDSC

EBDD

EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE

DYSTROPHIC EPIDERMOLYSIS BULLOSA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE

cui

C2675683

C0432322

C0079136

Gene Locus

3p21.3

Gene Symbol

COL7A1

NDNC8

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU022434

http://purl.bioontology.org/ontology/OMIM/MTHU022432

http://purl.bioontology.org/ontology/OMIM/MTHU022426

http://purl.bioontology.org/ontology/OMIM/MTHU022424

http://purl.bioontology.org/ontology/OMIM/MTHU036408

http://purl.bioontology.org/ontology/OMIM/MTHU010421

http://purl.bioontology.org/ontology/OMIM/MTHU023390

http://purl.bioontology.org/ontology/OMIM/MTHU027014

http://purl.bioontology.org/ontology/OMIM/MTHU024221

http://purl.bioontology.org/ontology/OMIM/MTHU022427

http://purl.bioontology.org/ontology/OMIM/MTHU022425

http://purl.bioontology.org/ontology/OMIM/MTHU022429

http://purl.bioontology.org/ontology/OMIM/MTHU022417

http://purl.bioontology.org/ontology/OMIM/MTHU023428

http://purl.bioontology.org/ontology/OMIM/MTHU022433

http://purl.bioontology.org/ontology/OMIM/MTHU023424

http://purl.bioontology.org/ontology/OMIM/MTHU001847

http://purl.bioontology.org/ontology/OMIM/MTHU022418

http://purl.bioontology.org/ontology/OMIM/MTHU022416

http://purl.bioontology.org/ontology/OMIM/MTHU027013

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

131750

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT

tui

T019

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567272 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C535956 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D016108 Medical Subject Headings CUI