Disease Term Disease ID Gene Symbol Classification References Source
Uncombable hair syndrome 1410, C0432347 PADI3 Causal Pathogenic evidence from ClinVar 27866708 ClinVar
TCHH Causal Pathogenic evidence from ClinVar - ClinVar
TGM3 Causal Pathogenic evidence from ClinVar 27866708 ClinVar
UNCOMBABLE HAIR SYNDROME 1 C4551573 PADI3 Causal Pathogenic evidence from ClinVar 27866708 ClinVar
UNCOMBABLE HAIR SYNDROME 3 C4310648 TCHH Causal Pathogenic evidence from ClinVar - ClinVar