Disease: Hypertrichosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.130 GeneticVariation disease BEFREE Here, we present images of distinct hypertrichosis in an otherwise asymptomatic one-year-old patient with pathogenic SURF1 gene mutations. 23408181 2013
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.130 GeneticVariation disease BEFREE In addition to our three patients, we have identified five patients in the literature with hypertrichosis and Leigh syndrome due to SURF1 mutations. 16222681 2005
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.130 GeneticVariation disease BEFREE We report a new 18-bp deletion (821del18), spanning the splice donor junction of exon 8 of SURF1, in an infant presenting with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. cDNA sequencing demonstrated that this deletion results in a messenger lacking exon 8. 11509016 2001
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.130 Biomarker disease HPO