About: spondylometaphyseal dysplasia Kozlowski type

Not logged in : Login

(Sponging disallowed)

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

About: spondylometaphyseal dysplasia Kozlowski type 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 spondylometaphyseal dysplasia nodeID://b50945044
label	spondylometaphyseal dysplasia Kozlowski type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111554
database_cross_reference	GARD:3047 MESH:C535797 OMIM:184252 ORDO:93314 SNOMEDCT_US_2021_09_01:254077000 UMLS_CUI:C0265280
has_exact_synonym	dysmorphism arthrogryposis skeletal maturation advanced (en) Jequier Kozlowski skeletal dysplasia (en) Jequier-Kozlowski syndrome (en) SMD Kozlowski type (en) skeletal dysplasia Jequier-Kozlowski type (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945045

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