Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Generalized resistance to thyroid hormone
Synonyms

Deafness-thyroid hormone resistance syndrome

Refetoff syndrome

Hearing loss-thyroid hormone resistance syndrome

ID

http://www.orpha.net/ORDO/Orphanet_3221

alternative_term

Deafness-thyroid hormone resistance syndrome

Refetoff syndrome

Hearing loss-thyroid hormone resistance syndrome

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3221

label

Generalized resistance to thyroid hormone

notation

ORPHA:3221

prefixIRI

ORDO:Orphanet_3221

prefLabel

Generalized resistance to thyroid hormone

reason_for_obsolescence

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

subClassOf

http://www.orpha.net/ORDO/Orphanet_C044

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