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(Q55998569)
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generalized resistance to thyroid hormone
human disease
Refetoff syndrome
Deafness-thyroid hormone resistance syndrome
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No description defined
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Statements
instance of
class of disease
0 references
subclass of
thyroid hormone resistance syndrome
0 references
genetic association
THRB
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000151090/MONDO_0009043
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_3221
0 references
Identifiers
ICD-10-CM
E07.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009043
ICD-11 ID (Foundation)
1074212276
0 references
ICD-11 ID (MMS)
5A05
subject named as
Generalised resistance to thyroid hormone
0 references
Mondo ID
MONDO_0009043
0 references
Orphanet ID
3221
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009043
UMLS CUI
C3489796
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009043
C2940786
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009043
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