loading...| Preferred Name | hypothyroidism, congenital, nongoitrous, 2 | |
| Synonyms |
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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| database_cross_reference |
MESH:C566852 DOID:0070124 MEDGEN:358389 OMIM:218700 UMLS:C1869118 |
|
| 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 |
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| has_related_synonym |
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 | ||
| id |
MONDO:0024264 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
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| label |
hypothyroidism, congenital, nongoitrous, 2 |
|
| notation |
MONDO:0024264 |
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| prefLabel |
hypothyroidism, congenital, nongoitrous, 2 |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0070124 http://linkedlifedata.com/resource/umls/id/C1869118 http://identifiers.org/medgen/358389 |
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| treeView | ||
| subClassOf |