loading...| 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 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 |
|
| 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 |
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| subClassOf | ||
| excluded_subClassOf |