About: Hereditary Multiple Exostoses

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Hereditary Multiple Exostoses Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Hereditary Multiple Exostoses
rdfs:subClassOf	Exostoses Neoplastic Syndromes, Hereditary nodeID://b679831 nodeID://b679832
Semantic_Type	Disease or Syndrome
Preferred_Name	Hereditary Multiple Exostoses
UMLS_CUI	C0015306
Legacy_Concept_Name	Hereditary_Multiple_Exostoses
FULL_SYN	Hereditary Multiple ExostosesPTNCI
DEFINITION	Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.NCI
code	C5183
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0008037
is someValuesFrom of	nodeID://b669716 nodeID://b669729 nodeID://b671457 nodeID://b671468
is sameAs of	Exostoses, Multiple Hereditary

Faceted Search & Find service v1.16.121 as of Mar 31 2025

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 55 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software