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- NCIT_C121745 IAO_0000115 "A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition." @default.
- NCIT_C121745 NCIT_NHC0 "C121745" @default.
- NCIT_C121745 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C121745 NCIT_P108 "Pendred Syndrome" @default.
- NCIT_C121745 NCIT_P207 "C0271829" @default.
- NCIT_C121745 NCIT_P322 "Cellosaurus" @default.
- NCIT_C121745 NCIT_P322 "NICHD" @default.
- NCIT_C121745 NCIT_P325 "A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition." @default.
- NCIT_C121745 NCIT_R100 NCIT_C12219 @default.
- NCIT_C121745 NCIT_R100 NCIT_C12400 @default.
- NCIT_C121745 NCIT_R100 NCIT_C12418 @default.
- NCIT_C121745 NCIT_R100 NCIT_C12680 @default.
- NCIT_C121745 NCIT_R100 NCIT_C12704 @default.
- NCIT_C121745 NCIT_R100 NCIT_C13018 @default.
- NCIT_C121745 NCIT_R100 NCIT_C13063 @default.
- NCIT_C121745 NCIT_R100 NCIT_C13319 @default.
- NCIT_C121745 NCIT_R101 NCIT_C12219 @default.
- NCIT_C121745 NCIT_R101 NCIT_C12400 @default.
- NCIT_C121745 NCIT_R101 NCIT_C12704 @default.
- NCIT_C121745 NCIT_R101 NCIT_C13018 @default.
- NCIT_C121745 NCIT_R101 NCIT_C13319 @default.
- NCIT_C121745 NCIT_R103 NCIT_C12219 @default.
- NCIT_C121745 NCIT_R103 NCIT_C12801 @default.
- NCIT_C121745 NCIT_R103 NCIT_C33785 @default.
- NCIT_C121745 normalizedInformationContent "100" @default.
- NCIT_C121745 referenceCount "1" @default.
- NCIT_C121745 hasExactSynonym "Pendred Syndrome" @default.
- NCIT_C121745 inSubset NCIT_C118467 @default.
- NCIT_C121745 inSubset NCIT_C165258 @default.
- NCIT_C121745 inSubset NCIT_C192842 @default.
- NCIT_C121745 inSubset NCIT_C90259 @default.
- NCIT_C121745 type Class @default.
- NCIT_C121745 isDefinedBy ncit.owl @default.
- NCIT_C121745 label "Pendred Syndrome" @default.
- NCIT_C121745 subClassOf NCIT_C121745 @default.
- NCIT_C121745 subClassOf NCIT_C26734 @default.
- NCIT_C121745 subClassOf NCIT_C26800 @default.
- NCIT_C121745 subClassOf NCIT_C26893 @default.
- NCIT_C121745 subClassOf NCIT_C27304 @default.
- NCIT_C121745 subClassOf NCIT_C27551 @default.
- NCIT_C121745 subClassOf NCIT_C27565 @default.
- NCIT_C121745 subClassOf NCIT_C27566 @default.
- NCIT_C121745 subClassOf NCIT_C27571 @default.
- NCIT_C121745 subClassOf NCIT_C27648 @default.
- NCIT_C121745 subClassOf NCIT_C27660 @default.
- NCIT_C121745 subClassOf NCIT_C27663 @default.
- NCIT_C121745 subClassOf NCIT_C2991 @default.
- NCIT_C121745 subClassOf NCIT_C3009 @default.
- NCIT_C121745 subClassOf NCIT_C53529 @default.
- NCIT_C121745 subClassOf NCIT_C53531 @default.
- NCIT_C121745 subClassOf NCIT_C7057 @default.