About: epidermolysis bullosa with congenital localized absence of skin and deformity of nails

Not logged in : Login

(Sponging disallowed)

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: epidermolysis bullosa with congenital localized absence of skin and deformity of nails Goto Sponge Distinct 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 dominant disease physical disorder autosomal dominant dystrophic epidermolysis bullosa nodeID://b50944632 nodeID://b50944633
label	epidermolysis bullosa with congenital localized absence of skin and deformity of nails
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111347
database_cross_reference	OMIM:132000
has_exact_synonym	EBD, Bart type (en) epidermolysis bullosa dystrophica, Bart type (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in COL7A1 on chromosome 3p21.31.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944634

Faceted Search & Find service v1.17_git150 as of Jan 20 2025

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3332 as of Jan 29 2025, on Linux (x86_64-generic-linux-glibc25), Single-Server Edition (378 GB total memory, 33 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software