loading...| Preferred Name | Generalized thyroid hormone resistance | |
| Synonyms |
GTHR |
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| Definitions |
(GTHR) - A disease characterized by goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). |
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| ID |
http://identifiers.org/omim/188570 |
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| altLabel |
GTHR |
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| definition |
(GTHR) - A disease characterized by goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). |
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| id |
OMIM:188570 |
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| notation |
OMIM:188570 |
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| prefLabel |
Generalized thyroid hormone resistance |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/188570 | REXO | SAME_URI | |
| http://identifiers.org/omim/188570 | GEXO | SAME_URI | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131816 | NCIT | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_188570 | CCO | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/237560005 | SNOMEDCT | LOOM | |
| http://identifiers.org/omim/188570 | REXO | LOOM | |
| http://identifiers.org/omim/188570 | GEXO | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C131816 | BERO | LOOM |