About: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome

Not logged in : Login

(Sponging disallowed)

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

About: juvenile polyposis-hereditary hemorrhagic telangiectasia 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 dominant disease syndrome nodeID://b50945019 nodeID://b50945020
label	juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111543
database_cross_reference	OMIM:175050
has_exact_synonym	JP-HHT (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in SMAD4 on chromosome 18q21.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945021

Faceted Search & Find service v1.17_git149 as of Dec 03 2024

Alternative Linked Data Documents: iSPARQL | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3331 as of Aug 25 2024, on Linux (x86_64-ubuntu_noble-linux-glibc2.38-64), Single-Server Edition (378 GB total memory, 13 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software