About: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Not logged in : Login

(Sponging disallowed)

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

About: immune dysregulation-polyendocrinopathy-enteropathy-X-linked 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	X-linked recessive disease autoimmune disease nodeID://b50942273 nodeID://b50942274
label	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090110
database_cross_reference	GARD:1850 ICD10CM:E31.0 OMIM:304790 ORDO:37042
has_exact_synonym	immunodeficiency, polyendocrinopathy, and enteropathy, X-linked (en) immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked (en) X-linked autoimmunity-allergic dysregulation syndrome (en) Autoimmune enteropathy type 1 (en) DMSD (en) IDDM-secretory diarrhea syndrome (en) IPEX (en) diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea (en) XLAAD (en) XPID (en) autoimmunity-immunodeficiency syndrome, X-linked (en) diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942275

Faceted Search & Find service v1.17_git144 as of Jul 26 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, 36 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software