loading...| Preferred Name | hypothyroidism, congenital, nongoitrous, 2 | |
| Synonyms |
congenital nongoitrous hypothryoidism 2 thyroid dysgenesis congenital nongoitrous hypothyroidism 2 thyrotropin resistance thyroid hypoplasia athyreotic hypothyroidism resistance to thyrotropin hypothyroidism, athyreotic thyroid, ectopic thyroid agenesis hypothyroidism, congenital, due to thyroid dysgenesis congenital hypothyroidism due to thyroid dysgenesis or hypoplasia CHNG2 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
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| Definitions |
A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0024264 |
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| altLabel |
congenital nongoitrous hypothryoidism 2 thyroid dysgenesis congenital nongoitrous hypothyroidism 2 thyrotropin resistance thyroid hypoplasia athyreotic hypothyroidism resistance to thyrotropin hypothyroidism, athyreotic thyroid, ectopic thyroid agenesis hypothyroidism, congenital, due to thyroid dysgenesis congenital hypothyroidism due to thyroid dysgenesis or hypoplasia CHNG2 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
|
| definition |
A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. |
|
| has_exact_synonym |
congenital hypothyroidism due to thyroid dysgenesis or hypoplasia CHNG2 hypothyroidism, congenital, nongoitrous, 2 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
|
| has_related_synonym |
congenital nongoitrous hypothryoidism 2 thyroid dysgenesis congenital nongoitrous hypothyroidism 2 thyrotropin resistance thyroid hypoplasia athyreotic hypothyroidism resistance to thyrotropin hypothyroidism, athyreotic thyroid, ectopic thyroid agenesis hypothyroidism, congenital, due to thyroid dysgenesis |
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| IAO_0000233 | ||
| label |
hypothyroidism, congenital, nongoitrous, 2 |
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| prefixIRI |
MONDO:0024264 |
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| prefLabel |
hypothyroidism, congenital, nongoitrous, 2 |
|
| textual definition |
A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. |
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| subClassOf |