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English
MIRAGE syndrome
human disease
myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy syndrome
Mirage Syndrome
MIRAGE
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No label defined
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
genetic disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014888
genetic association
SAMD9
3 references
stated in
UniProt
UniProt protein ID
Q5K651
retrieved
13 August 2019
stated in
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000205413/MONDO_0014888
based on heuristic
inferred from an Open Targets association score over 0.7
NCI Thesaurus ID
C147530
0 references
Identifiers
GARD rare disease ID
13108
0 references
Mondo ID
MONDO_0014888
0 references
OMIM ID
617053
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014888
Orphanet ID
494433
0 references
UMLS CUI
C4284088
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014888
UniProt disease ID
DI-04777
0 references
Sitelinks
Wikipedia
(1 entry)
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frwiki
Syndrome Mirage
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Wikinews
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Wikiversity
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