Disease: Sense of smell impaired ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.120 GeneticVariation phenotype BEFREE CHD7 mutations disrupt the targeting of olfactory axons and the migration of GnRH-synthesizing neurons during embryonic development, resulting in congenital idiopathic hypogonadotropic hypogonadism (IHH) and anosmia (or hyposmia), two features that define human Kallmann syndrome. 29152903 2017
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.120 Biomarker phenotype BEFREE Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. 19279158 2009
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.120 Biomarker phenotype HPO