Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q53160608)
Watch
English
Tatton-Brown–Rahman syndrome
human disease
TBRS
Tatton-Brown-Rahman overgrowth syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman syndrome
In more languages
edit
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)
edit
enwiki
Tatton-Brown–Rahman syndrome
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
