About: primary ciliary dyskinesia 32

Not logged in : Login

(Sponging disallowed)

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

About: primary ciliary dyskinesia 32 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	primary ciliary dyskinesia
label	primary ciliary dyskinesia 32
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110603
database_cross_reference	ICD10CM:Q34.8 OMIM:616481
has_exact_synonym	CILD32 (en) primary ciliary dyskinesia 32 without situs inversus (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943295

Faceted Search & Find service v1.17_git150 as of Jan 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, 75 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software