Tatton-Brown–Rahman syndrome (Q53160608)

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human disease

• TBRS
• Tatton-Brown-Rahman overgrowth syndrome
• DNMT3A-related overgrowth syndrome
• Tatton-Brown-Rahman syndrome

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Language	Label	Description	Also known as
English	Tatton-Brown–Rahman syndrome	human disease	TBRS Tatton-Brown-Rahman overgrowth syndrome DNMT3A-related overgrowth syndrome Tatton-Brown-Rahman syndrome

Statements

instance of

syndrome

0 references

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014382

rare disease

0 references

overgrowth syndrome

0 references

subclass of

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014382

genetic syndromic intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014382

named after

Nazneen Rahman

0 references

genetic association

DNMT3A

4 references

stated in

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

stated in

UniProt

UniProt protein ID

Q9Y6K1

retrieved

13 August 2019

stated in

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000119772/MONDO_0014382

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_404443

0 references

Identifiers

KEGG ID

H02294

0 references

ICD-10-CM

Q87.3

1 reference

stated in

Orphanet

Orphanet ID

404443

retrieved

9 January 2024

Mondo ID

MONDO_0014382

0 references

OMIM ID

615879

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014382

Orphanet ID

404443

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014382

UMLS CUI

C4014545

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014382

UniProt disease ID

DI-04151

0 references

 

Sitelinks

Wikipedia(1 entry)

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• enwiki Tatton-Brown–Rahman syndrome

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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