About: pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Not logged in : Login

(Sponging disallowed)

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

About: pancreatic hypoplasia-diabetes-congenital heart disease 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 physical disorder syndrome nodeID://b50945370 nodeID://b50945371
label	pancreatic hypoplasia-diabetes-congenital heart disease syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111733
database_cross_reference	OMIM:600001
has_exact_synonym	HDCA PACHD Yorifuji-Okuno syndrome pancreatic agenesis and congenital heart defects congenital heart defects and other congenital anomalies congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945372

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, 32 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software