EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Disease: Congenital hypotrichia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		0.120 GeneticVariation disease BEFREE The affected female showed homogeneous hypotrichosis and oligodontia as previously observed in bovine EDAR homozygous and EDA hemizygous mutants. 31533624 2019
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		0.120 GeneticVariation disease BEFREE Patients with defective ectodysplasin A (EDA) have X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM#305100), a condition comprising hypotrichosis, inability to sweat, abnormal teeth, and frequent pulmonary infections. 19533784 2009
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		0.120 CausalMutation disease CLINVAR