MCID: DMN044
MIFTS: 9

Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

MalaCards integrated aliases for Dominant Dystrophic Epidermolysis Bullosa, Nails Only:

Name: Dominant Dystrophic Epidermolysis Bullosa, Nails Only 59
Nails-Only Ddeb 59

Characteristics:

Orphanet epidemiological data:

59
dominant dystrophic epidermolysis bullosa, nails only
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA158676
ICD10 via Orphanet 34 Q81.2

Summaries for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

MalaCards based summary : Dominant Dystrophic Epidermolysis Bullosa, Nails Only, is also known as nails-only ddeb. An important gene associated with Dominant Dystrophic Epidermolysis Bullosa, Nails Only is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are absent toenail and dystrophic toenail

Related Diseases for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Symptoms & Phenotypes for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Human phenotypes related to Dominant Dystrophic Epidermolysis Bullosa, Nails Only:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001802
2 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
3 nail dystrophy 59 Very frequent (99-80%)

Drugs & Therapeutics for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Search Clinical Trials , NIH Clinical Center for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Genetic Tests for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Anatomical Context for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

MalaCards organs/tissues related to Dominant Dystrophic Epidermolysis Bullosa, Nails Only:

41
Skin

Publications for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Variations for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Expression for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Search GEO for disease gene expression data for Dominant Dystrophic Epidermolysis Bullosa, Nails Only.

Pathways for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

GO Terms for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

Sources for Dominant Dystrophic Epidermolysis Bullosa, Nails Only

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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