MCID: TRB003
MIFTS: 11

Trueb Burg Bottani Syndrome

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Trueb Burg Bottani Syndrome

MalaCards integrated aliases for Trueb Burg Bottani Syndrome:

Name: Trueb Burg Bottani Syndrome 19 71
Ectodermal Dysplasia with Corkscrew Hairs 19 75
Tricho-Odonto-Onychodysplasia with Syndactyly 19
Trueb-Burg-Bottani Syndrome 75

Classifications:



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UMLS 71 C2931239

Summaries for Trueb Burg Bottani Syndrome

MalaCards based summary: Trueb Burg Bottani Syndrome, also known as ectodermal dysplasia with corkscrew hairs, is related to chromosome 2q35 duplication syndrome and ectodermal dysplasia. Affiliated tissues include skin.

Wikipedia: 75 Ectodermal dysplasia with corkscrew hairs is a skin condition with salient features including... more...

Related Diseases for Trueb Burg Bottani Syndrome

Diseases related to Trueb Burg Bottani Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 10.5
2 ectodermal dysplasia 10.5
3 pili torti, early-onset 10.4
4 keratosis 10.4
5 bustos simosa pinto cisternas syndrome 10.4
6 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
7 tuberous sclerosis 1 10.3
8 tuberous sclerosis 2 10.3
9 tuberous sclerosis 10.3
10 dermatitis 10.3
11 cleft lip 10.3
12 cleft lip/palate 10.3

Graphical network of the top 20 diseases related to Trueb Burg Bottani Syndrome:



Diseases related to Trueb Burg Bottani Syndrome

Symptoms & Phenotypes for Trueb Burg Bottani Syndrome

Drugs & Therapeutics for Trueb Burg Bottani Syndrome

Search Clinical Trials, NIH Clinical Center for Trueb Burg Bottani Syndrome

Genetic Tests for Trueb Burg Bottani Syndrome

Anatomical Context for Trueb Burg Bottani Syndrome

Organs/tissues related to Trueb Burg Bottani Syndrome:

MalaCards : Skin

Publications for Trueb Burg Bottani Syndrome

Articles related to Trueb Burg Bottani Syndrome:

# Title Authors PMID Year
1
A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. 62
9486713 1998
2
Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly. 62
8141890 1994
3
Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. 62
1479096 1992

Variations for Trueb Burg Bottani Syndrome

Expression for Trueb Burg Bottani Syndrome

Search GEO for disease gene expression data for Trueb Burg Bottani Syndrome.

Pathways for Trueb Burg Bottani Syndrome

GO Terms for Trueb Burg Bottani Syndrome

Sources for Trueb Burg Bottani Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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