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ectodermal dysplasia syndrome

Disease Summary
Associated Targets (108)
Tbio

85

Tchem

15

Tclin

7

Tdark

1


GARD Rare
Mondo Description The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
Disease Ontology Description A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Mondo Term and Equivalent IDs
MONDO:0019287:  ectodermal dysplasia syndrome
COHD:134757: 
GARD:0006317: 
ICD9:757.31: 
MESH:D004476: 
NCIT:C84683: 
OMIMPS:305100: 
Orphanet:79373: 
SCTID:8654005: 
UMLS:C0013575: