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| Term | glucocorticoid deficiency 5 | ID (Ontology) | DOID:0061244 (Human Disease) | |||||||||
| Definition | A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11." [url:https\://pubmed.ncbi.nlm.nih.gov/24601690/] {comment="One such family has been reported."} | |||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease_________ adrenal gland disease | |__familial glucocorticoid deficiency__| glucocorticoid deficiency 5 2 rec. |
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| Is a |
autosomal recessive disease familial glucocorticoid deficiency |
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External Crossreferences & Linkouts
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| MIM:617825 | |||