Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

COLLAGEN, TYPE VII, ALPHA-1
Synonyms

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

COL7A1

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT

LONG-CHAIN COLLAGEN

LC COLLAGEN

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE

EPIDERMOLYSIS BULLOSA, PRETIBIAL

EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE

TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN

ID

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

altLabel

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

COL7A1

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT

LONG-CHAIN COLLAGEN

LC COLLAGEN

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE

EPIDERMOLYSIS BULLOSA, PRETIBIAL

EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE

TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN

cui

C0268371

C2673612

C0079474

C1851573

C1853063

C2675780

C1843761

C0432322

C0432321

C2673611

C1413592

C4015945

Gene Locus

3p21.3

Gene Symbol

NDNC8

COL7A1

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

120120

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COLLAGEN, TYPE VII, ALPHA-1

tui

T047

T033

T019

T028

Delete Subject Author Type Created
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/2689001 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C567122 MESH CUI
http://purl.bioontology.org/ontology/MESH/D016108 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/723553000 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C564384 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/75875004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/67653003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C567121 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/2689001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-90926 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C562638 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10087380 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10087380 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/48528004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-90910 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/48528004 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D016108 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10087380 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/723553000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C536979 MESH CUI
http://purl.bioontology.org/ontology/RCD/X78Cl RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/75875004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-90922 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C535956 MESH CUI
http://purl.bioontology.org/ontology/RCD/X78Ci RCD CUI
http://purl.bioontology.org/ontology/MESH/C535494 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/67653003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-90948 SNMI CUI
http://www.limics.org/hrdo/rdfns#gen_id_15781 HRDO LOOM