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calbc:hasCorrelation | |
skos:definition |
MSH: Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.
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skos:inScheme | |
skos-xl:prefLabel | |
skos-xl:altLabel |
umls-label:A15585155,
umls-label:A15587117,
umls-label:A15581184,
umls-label:A15587118,
umls-label:A20905440,
umls-label:A18561933,
umls-label:A18580349,
umls-label:A20909284,
umls-label:A20912962,
umls-label:A20912961,
umls-label:A11960913,
umls-label:A20903534,
umls-label:A12032481,
umls-label:A20911110,
umls-label:A11960912,
umls-label:A20909283,
umls-label:A20903533,
umls-label:A20905439,
umls-label:A20905438,
umls-label:A19296420,
umls-label:A19287936
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