hypothyroidism due to iodide transport defect
http://purl.obolibrary.org/obo/MONDO_0043103
A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. [ NCIT:C121747 ]
Term info
- NCIT:C121747 (MONDO:equivalentTo)
- GARD:0002938 (MONDO:equivalentTo)
- SCTID:22558005 (MONDO:equivalentTo)
- UMLS:C0271826 (NCIT:C121747)
gard_rare
A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.
http://linkedlifedata.com/resource/umls/id/C0271826, http://identifiers.org/snomedct/22558005, http://purl.obolibrary.org/obo/NCIT_C121747
hypothyroidism due to iodide transport defect, iodide Transport defect, iodide transport defect
iodide transport failure, iodine accumulation defect, hypothyroidism due to iodide concentration defect, iodine transport defect
MONDO:0043103