About: reticular dysgenesis

Not logged in : Login

(Sponging disallowed)

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

About: reticular dysgenesis Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease severe combined immunodeficiency nodeID://b50938071 nodeID://b50938072 nodeID://b50938073
label	reticular dysgenesis
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060020
has_alternative_id	DOID:1226
database_cross_reference	GARD:8625 MESH:C538361 NCI:C27070 OMIM:267500 SNOMEDCT_US_2021_09_01:111584000 UMLS_CUI:C0272167
has_exact_synonym	De Vaal disease (en)
has_obo_namespace	disease_ontology
has_related_synonym	aleukocytosis (en)
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938074

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