OBO ID: DOID:0111140 |
Term Name: | IGSF1 deficiency syndrome | Search Ontology: | |
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Synonyms: |
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Definition: | A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. (2) | ||
References: |
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Ontology: | Human Disease ( DOID:0111140 ) |
OTHER IGSF1 deficiency syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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IGSF1 | Hypothyroidism, central, and testicular enlargement |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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