About: osteogenesis imperfecta type 3

Not logged in : Login

(Sponging disallowed)

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

About: osteogenesis imperfecta type 3 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 osteogenesis imperfecta nodeID://b50942913
label	osteogenesis imperfecta type 3
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110339
database_cross_reference	GARD:8695 ICD10CM:Q78.0 OMIM:259420
has_exact_synonym	progressively deforming osteogenesis imperfecta with normal sclera (en) OI3 (en) osteogenesis imperfecta type III (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942914

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