About: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive

Not logged in : Login

(Sponging disallowed)

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

About: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive 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 recessive disease severe combined immunodeficiency nodeID://b50942054
label	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090013
database_cross_reference	ICD10CM:D81.1 OMIM:601457 ORDO:331206
has_exact_synonym	SCID due to complete RAG1-2 deficiency (en) Severe combined immunodeficiency due to complete RAG1-2 deficiency (en) autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942055

Faceted Search & Find service v1.17_git151 as of Feb 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, 79 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software