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(Q11798714)
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English
glucocorticoid resistance
medical condition
GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR
Grl Deficiency
Glucocorticoid Receptor Deficiency
GLUCOCORTICOID RESISTANCE, GENERALIZED
Gcr Deficiency
Gccr Deficiency
Cortisol Resistance From Glucocorticoid Receptor Defect
GCCR
In more languages
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Statements
instance of
genetic disease
0 references
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
rare disease
0 references
class of disease
0 references
subclass of
adrenal gland disease
0 references
46,XX disorder of sex development induced by fetal androgens excess
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
genetic association
NR3C1
3 references
stated in
UniProt
UniProt protein ID
P04150
retrieved
13 August 2019
stated in
Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000113580/MONDO_0014421
based on heuristic
inferred from an Open Targets association score over 0.7
NCI Thesaurus ID
C126809
0 references
exact match
http://www.orpha.net/ORDO/Orphanet_786
0 references
Identifiers
MeSH descriptor ID
C564221
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
KEGG ID
H01702
0 references
GARD rare disease ID
2499
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
ICD-10-CM
E25.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
ICD-11 (foundation)
125216923
0 references
ICD-11 ID (MMS)
5A71.00
subject named as
Glucocorticoid resistance
0 references
Mondo ID
MONDO_0014421
0 references
OMIM ID
615962
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
Orphanet ID
786
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
UMLS CUI
C1841971
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
C1841972
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014421
UniProt disease ID
DI-01671
0 references
Sitelinks
Wikipedia
(4 entries)
edit
cawiki
Resistència als glucocorticoides
dewiki
Glukokortikoid-Resistenz
enwiki
Generalized glucocorticoid resistance
plwiki
Oporność na glikokortykosteroidy
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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