Trueb Burg Bottani Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C2931239

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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...

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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
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:

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Symptoms & Phenotypes for Trueb Burg Bottani Syndrome

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Drugs & Therapeutics for Trueb Burg Bottani Syndrome

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

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Genetic Tests for Trueb Burg Bottani Syndrome

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Anatomical Context for Trueb Burg Bottani Syndrome

Organs/tissues related to Trueb Burg Bottani Syndrome:

MalaCards : Skin

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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	Argenziano G...Delfino M	9486713	1998
2	Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly. ⁶²	Trueb R...Schinzel A	8141890	1994
3	Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. ⁶²	Abramovits-Ackerman W...Ramella M	1479096	1992

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Genes for Trueb Burg Bottani Syndrome

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Variations for Trueb Burg Bottani Syndrome

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Expression for Trueb Burg Bottani Syndrome

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

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Pathways for Trueb Burg Bottani Syndrome

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GO Terms for Trueb Burg Bottani Syndrome

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Sources for Trueb Burg Bottani Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: TRB003 MIFTS: 11	Trueb Burg Bottani Syndrome Categories: Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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