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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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| Preferred Name | Hypothyroidism, congenital, non-goitrous, 2 | |
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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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