Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL
Synonyms

EPIDERMOLYSIS BULLOSA, PRETIBIAL
ID

http://purl.bioontology.org/ontology/OMIM/131850
altLabel

EPIDERMOLYSIS BULLOSA, PRETIBIAL

DEB, PRETIBIAL

DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL
cui

C0432321
Gene Locus

3p21.3
Gene Symbol

COL7A1

NDNC8
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU048458

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

http://purl.bioontology.org/ontology/OMIM/MTHU048465

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

http://purl.bioontology.org/ontology/OMIM/MTHU048463

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU048461

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU048459

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

http://purl.bioontology.org/ontology/OMIM/MTHU038627

http://purl.bioontology.org/ontology/OMIM/MTHU001049

http://purl.bioontology.org/ontology/OMIM/MTHU039444

http://purl.bioontology.org/ontology/OMIM/MTHU048462

http://purl.bioontology.org/ontology/OMIM/MTHU048460

http://purl.bioontology.org/ontology/OMIM/MTHU048464

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

http://purl.bioontology.org/ontology/OMIM/MTHU022428
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

131850
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL
tui

T019
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http://purl.bioontology.org/ontology/MESH/C535494 Medical Subject Headings CUI