Preferred Name | thyroid hormone resistance syndrome | |
Synonyms |
resistance to thyroid stimulating hormone resistance to thyrotropin TSH resistance RTH thyroid hormone resistance syndrome thyroid hormone resistance thyroid hormone responsiveness defect generalised thyroid hormone resistance generalized thyroid hormone resistance |
|
Definitions |
An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0001328 |
|
database_cross_reference |
UMLS:C2940786 NANDO:2100121 MESH:D018382 SCTID:111567006 MEDGEN:424854 NANDO:1200395 NANDO:2200341 DOID:11633 ICD9:259.8 |
|
definition |
An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. |
|
disease has major feature | ||
exactMatch |
http://identifiers.org/snomedct/111567006 http://purl.obolibrary.org/obo/DOID_11633 http://identifiers.org/medgen/424854 |
|
has_exact_synonym |
thyroid hormone resistance syndrome thyroid hormone resistance thyroid hormone responsiveness defect generalised thyroid hormone resistance generalized thyroid hormone resistance |
|
has_related_synonym |
resistance to thyroid stimulating hormone resistance to thyrotropin TSH resistance RTH |
|
id |
MONDO:0001328 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
label |
thyroid hormone resistance syndrome |
|
notation |
MONDO:0001328 |
|
preferred label |
thyroid hormone resistance syndrome |
|
prefLabel |
thyroid hormone resistance syndrome |
|
subClassOf | ||
excluded_subClassOf |