About: Cytogenetic Abnormality

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

About: Cytogenetic Abnormality Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Class
rdfs:label	Cytogenetic Abnormality
rdfs:subClassOf	Molecular Abnormality
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Cell or Molecular Dysfunction
Preferred_Name	Cytogenetic Abnormality
UMLS_CUI	C0008625
Contributing_Source	NICHD
Legacy_Concept_Name	Chromosomal_Aberration
FULL_SYN	Cytogenetic AberrationSYNCI Chromosomal AberrationSYNCI Chromosome AbnormalitySYNCI Chromosome AlterationsSYNCI Cytogenetic AbnormalityPTNCI Chromosomal AbnormalitySYNCI Chromosomal AlterationsSYNCI Chromosome AbnormalityPTNICHD Chromosomal AbnormalitiesSYNCI Aberrant ChromosomeSYNCI Chromosome AnomaliesSYNCI Chromosome AberrationSYNCI
DEFINITION	An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material.NCI
code	C2950
is rdfs:domain of	Cytogenetic_Abnormality_Involves_Chromosome
is rdfs:subClassOf of	Isodicentric Chromosome Mosaicism Ring Chromosomes Giant Rod Chromosome Aberrant Chromosome 1 Chromosomal Rearrangement Isochromosomes Chromosomal Instability Numerical Chromosomal Abnormality Derivative Chromosome Homogeneously Staining Region Double Minutes Dicentric Chromosome Complex Karyotype
is Role_Has_Domain of	Cytogenetic_Abnormality_Involves_Chromosome
is Has_NICHD_Parent of	WAGR Syndrome Monosomy 13q Syndrome Complete Trisomy 21 Syndrome Complete Trisomy 13 Syndrome Complete Trisomy 18 Syndrome Turner Syndrome Down Syndrome Cri-du-Chat Syndrome Klinefelter Syndrome Triploidy Syndrome

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 47 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software