About: orofaciodigital syndrome V

Not logged in : Login

(Sponging disallowed)

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

About: orofaciodigital syndrome V 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 orofaciodigital syndrome nodeID://b50938740
label	orofaciodigital syndrome V
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060375
created_by	elvira
creation_date	2015-09-18T15:00:19Z
database_cross_reference	MESH:C557819 OMIM:174300 ORDO:2919 SNOMEDCT_US_2021_09_01:722105002 UMLS_CUI:C1868118
has_exact_synonym	polydactyly, postaxial, with median cleft of upper lip (en) OFD5 (en) orofaciodigital syndrome Thurston type (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938741

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