Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Jump to:
loading...
Preferred Name

Ectodermal dysplasia syndrome
Synonyms

Ectodermal dysplasia
Definitions

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.
ID

http://www.orpha.net/ORDO/Orphanet_79373
alternative_term

Ectodermal dysplasia
definition

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.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373
has_age_of_onset

Infancy

Neonatal
hasDbXref

UMLS:C0013575

MedDRA:10010452

MeSH:D004476

ICD-11:LD27.0
label

Ectodermal dysplasia syndrome
notation

ORPHA:79373

Category
prefixIRI

ORDO:Orphanet_79373
prefLabel

Ectodermal dysplasia syndrome
present_in

Worldwide AND has_point_prevalence_range : 6-9 / 10 000
subClassOf

http://www.orpha.net/ORDO/Orphanet_139027

http://www.orpha.net/ORDO/Orphanet_183447

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_79362
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display