Preferred Name |
Hypothyroidism, congenital, non-goitrous, 2 |
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Synonyms |
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Definitions |
(CHNG2): A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. |
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ID |
http://purl.obolibrary.org/obo/OMIM_218700 |
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definition |
(CHNG2): A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. |
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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:218700 |
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label |
Hypothyroidism, congenital, non-goitrous, 2 |
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notation |
OMIM:218700 |
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prefLabel |
Hypothyroidism, congenital, non-goitrous, 2 |
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treeView | ||
subClassOf |