About: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome

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About: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease ectodermal dysplasia nodeID://b50945206
label	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111649
database_cross_reference	GARD:2078 OMIM:225280 ORDO:1897
has_exact_synonym	EEM syndrome (en) EEMS (en) ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945207

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