ZFIN Human Disease: ectodermal dysplasia 1

OBO ID: DOID:0111664

Term Name:	ectodermal dysplasia 1		Search Ontology:
Synonyms:	Christ-Siemens-Touraine syndrome CST syndrome ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked ED1 HED1 hypohidrotic ectodermal dysplasia, X-Linked X-linked anhidrotic ectodermal dysplasia XHED XLHED
Definition:	A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. https://www.ncbi.nlm.nih.gov/pubmed/8434608
References:	MESH:D053358 NCI:C84562 OMIM:305100 ORDO:181 SNOMEDCT_US_2023_03_01:239007005 UMLS_CUI:C0162359
Ontology:	Human Disease ( DOID:0111664 )

Relationships

is a type of:	hypohidrotic ectodermal dysplasia X-linked recessive disease hypohidrotic ectodermal dysplasia X-linked recessive disease Show first 5 Terms

OTHER ectodermal dysplasia 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EDA	eda	Ectodermal dysplasia 1, hypohidrotic, X-linked	305100

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None