About: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Not logged in : Login

(Sponging disallowed)

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

About: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 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 sideroblastic anemia nodeID://b50940583
label	sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080209
database_cross_reference	OMIM:616084
has_exact_synonym	SIFD (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940584

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