thyroid hormone resistance syndrome

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Human disease

Välised allikad

WikiProjectMed ID	Thyroid hormone resistance
MeSH descriptor ID	D018382^[1] teema nimetus kujul: Thyroid Hormone Resistance Syndrome mapping relation type: täpne vaste
Mondo ID	MONDO_0001328
Human Phenotype Ontology ID	HP:0002930^[2]
DiseasesDB	31913
Microsoft Academic ID	2776312609 2908543408
PatientsLikeMe condition ID	thyroid-hormone-resistance
KEGG ID	H00249
UMLS CUI	C2937288
GARD rare disease ID	301
ICD-11 (foundation)	1882852726
ICD-10	E07
Medical Dictionary for Regulatory Activities ID	10043709^[3]
ICD-9 ID	246.8
Freebase	/m/0451vg^[4]
Disease Ontology ID	DOID:11633^[5]
MeSH tree code	C19.874.410.500

rare disease

designated intractable/rare disease^[6]

class of disease

peripheral resistance to thyroid hormones

THRB^[7]^[8]

teose keel või nime keelsus: jaapani keel

259.8^[9]

C131816

↑ Monarch Disease Ontology release 2018-06-29, MONDO_0001328, 27. juuli 2018
↑ ^2,0 ^2,1 Human Phenotype Ontology release 2018-03-08, 8. oktoober 2018, HP:0002930
↑ inferred by common ICD-10 mappings on Wikidata and on source, https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx
↑ Freebase Data Dumps, 28. oktoober 2013
↑ ^5,0 ^5,1 ^5,2 Disease Ontology, 30. november 2020, DOID:11633
↑ ^6,0 ^6,1 https://ddrare.nibiohn.go.jp/, 17. mai 2019
↑ Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation
↑ Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta
↑ Monarch Disease Ontology release 2018-06-29, 27. juuli 2018, MONDO_0001328
↑ Identifiers.org, https://registry.identifiers.org/registry/doid