About: nodeID://b50946321

Not logged in : Login

(Sponging disallowed)

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

About: nodeID://b50946321 Sponge NotDistinct Permalink

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

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	chondrodysplasia with joint dislocations gPAPP type
annotatedTarget	An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in IMPAD1 on chromosome 8q12.
database_cross_reference	url:https://pubmed.ncbi.nlm.nih.gov/21549340/ url:https://pubmed.ncbi.nlm.nih.gov/22887726/
is topic of	Human Disease Ontology

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