trichothiodystrophy syndromes (Q3539030)

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human disease

Tay syndrome
sulfur-deficient brittle hair syndrome
trichothiodystrophy
trichothiodystrophy with congenital ichthyosis
IBIDS syndrome
Trichothiodystrophy Syndrome
photosensitive trichothiodystrophy

Language	Label	Description	Also known as
English	trichothiodystrophy syndromes	human disease	Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy trichothiodystrophy with congenital ichthyosis IBIDS syndrome Trichothiodystrophy Syndrome photosensitive trichothiodystrophy

Statements

0 references

class of disease

0 references

autosomal dominant disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

trichothiodystrophy

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

0 references

medical genetics

0 references

genetic association

2 references

DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000104884/MONDO_0018053

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

2 references

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000163161/MONDO_0018053

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

1 reference

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

1 reference

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C4924

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

C4924

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

http://purl.obolibrary.org/obo/DOID_2960

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:2960

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_33364

0 references

Identifiers

MeSH descriptor ID

mapping relation type

subject named as

Trichothiodystrophy Syndromes

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

C16.131.077.899

0 references

C16.131.831.874

0 references

C16.320.850.895

0 references

C17.800.804.874

0 references

C17.800.827.895

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

0 references

Genetics Home Reference Conditions ID

trichothiodystrophy

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

ICD-11 ID (Foundation)

0 references

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Microsoft Academic ID

0 references

0 references

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Trichothiodystrophy&oldid=950291495

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

WikiProjectMed ID

Trichothiodystrophy

0 references

Sitelinks

Wikipedia(8 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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