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(Q11798714)
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
default for all languages
No label defined
No description defined
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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 ID (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
(5 entries)
edit
arwiki
مقاومة القشرانيات السكرية المعممة
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
(0 entries)
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Wikivoyage
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Wiktionary
(0 entries)
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Multilingual sites
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