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(Q55783595)
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English
oligodontia-cancer predisposition syndrome
human disease
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
ODCRCS
OLIGODONTIA-COLORECTAL CANCER SYNDROME
OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS
Tooth Agenesis-Colorectal Cancer Syndrome
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
rare disease
0 references
class of disease
0 references
subclass of
inherited tumor
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
malformation syndrome with odontal and/or periodontal component
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
rare genetic developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
polymalformative genetic syndrome with increased risk of developing cancer
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
genetic association
AXIN2
3 references
stated in
UniProt
UniProt protein ID
Q9Y2T1
retrieved
13 August 2019
stated in
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000168646/MONDO_0012075
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_300576
0 references
Identifiers
MeSH descriptor ID
C563898
mapping relation type
exact match
subject named as
Oligodontia-Colorectal Cancer Syndrome
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
KEGG ID
H00857
0 references
ICD-11 (foundation)
104819396
0 references
Mondo ID
MONDO_0012075
0 references
OMIM ID
608615
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
Orphanet ID
300576
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
UMLS CUI
C1837750
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0012075
C4750788
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-02092
0 references
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