About: immunodeficiency 21

Not logged in : Login

(Sponging disallowed)

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

About: immunodeficiency 21 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 primary immunodeficiency disease nodeID://b50945793
label	immunodeficiency 21
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111947
database_cross_reference	GARD:10934 MESH:D000077428 NCI:C126349 OMIM:614172 ORDO:228423 SNOMEDCT_US_2020_03_01:778024005
has_exact_synonym	combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections DCML GATA2 deficiency IMD21 MonoMAC monocytopenia and mycobacterial infection syndrome monocytopenia with susceptibility to infections monocyte-B-natural killer-dendritic cell deficiency syndrome dendritic cell, monocyte, B and NK lymphoid deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945794

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, 14 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software