Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

COLLAGEN, TYPE VII, ALPHA-1

Synonyms

EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE

ID

http://purl.bioontology.org/ontology/OMIM/120120

altLabel

EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE

EPIDERMOLYSIS BULLOSA, PRETIBIAL

LC COLLAGEN

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

COL7A1

TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN

LONG-CHAIN COLLAGEN

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT

EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT

cui

C0268371

C1853063

C1843761

C4015945

C2675780

C0432321

C2673612

C0079474

C1413592

C0432322

C2673611

C1851573

Gene Locus

3p21.3

Gene Symbol

COL7A1

NDNC8

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/120120.0028

http://purl.bioontology.org/ontology/OMIM/120120.0008

http://purl.bioontology.org/ontology/OMIM/120120.0029

http://purl.bioontology.org/ontology/OMIM/120120.0009

http://purl.bioontology.org/ontology/OMIM/120120.0039

http://purl.bioontology.org/ontology/OMIM/120120.0011

http://purl.bioontology.org/ontology/OMIM/120120.0003

http://purl.bioontology.org/ontology/OMIM/120120.0032

http://purl.bioontology.org/ontology/OMIM/120120.0030

http://purl.bioontology.org/ontology/OMIM/120120.0012

http://purl.bioontology.org/ontology/OMIM/120120.0010

http://purl.bioontology.org/ontology/OMIM/120120.0031

http://purl.bioontology.org/ontology/OMIM/120120.0043

http://purl.bioontology.org/ontology/OMIM/120120.0023

http://purl.bioontology.org/ontology/OMIM/120120.0044

http://purl.bioontology.org/ontology/OMIM/120120.0005

http://purl.bioontology.org/ontology/OMIM/120120.0024

http://purl.bioontology.org/ontology/OMIM/120120.0006

http://purl.bioontology.org/ontology/OMIM/120120.0004

http://purl.bioontology.org/ontology/OMIM/120120.0036

http://purl.bioontology.org/ontology/OMIM/120120.0038

http://purl.bioontology.org/ontology/OMIM/120120.0037

http://purl.bioontology.org/ontology/OMIM/120120.0018

http://purl.bioontology.org/ontology/OMIM/120120.0017

http://purl.bioontology.org/ontology/OMIM/120120.0045

http://purl.bioontology.org/ontology/OMIM/120120.0025

http://purl.bioontology.org/ontology/OMIM/120120.0019

http://purl.bioontology.org/ontology/OMIM/120120.0041

http://purl.bioontology.org/ontology/OMIM/120120.0021

http://purl.bioontology.org/ontology/OMIM/120120.0001

http://purl.bioontology.org/ontology/OMIM/120120.0020

http://purl.bioontology.org/ontology/OMIM/120120.0022

http://purl.bioontology.org/ontology/OMIM/120120.0002

http://purl.bioontology.org/ontology/OMIM/120120.0013

http://purl.bioontology.org/ontology/OMIM/120120.0016

http://purl.bioontology.org/ontology/OMIM/120120.0033

http://purl.bioontology.org/ontology/OMIM/120120.0014

http://purl.bioontology.org/ontology/OMIM/120120.0026

http://purl.bioontology.org/ontology/OMIM/120120.0040

http://purl.bioontology.org/ontology/OMIM/120120.0042

http://purl.bioontology.org/ontology/OMIM/120120.0027

http://purl.bioontology.org/ontology/OMIM/120120.0007

http://purl.bioontology.org/ontology/OMIM/120120.0034

http://purl.bioontology.org/ontology/OMIM/120120.0035

http://purl.bioontology.org/ontology/OMIM/120120.0015

MIMTYPEMEANING

Gene with known sequence

notation

120120

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COLLAGEN, TYPE VII, ALPHA-1

tui

T028

T019

T033

T047

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http://purl.bioontology.org/ontology/MESH/C562638 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564384 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567122 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536979 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567121 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
http://purl.bioontology.org/ontology/MESH/C535494 Medical Subject Headings CUI