Genetic disorder

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Single-gene

Genomic imprinting Uniparental disomy Recessive and dominant Autosomal X-linked

57 related topics

Multifactorial disorder

Heart disease Diabetes Genotype Phenotype Genotype-first approach

20 related topics

Overview

Genome Mutation Gene Chromosome abnormality Chromosome

21 related topics

Diagnosis

Pre-birth At birth Family history Stillbirth Termination

9 related topics

Key facts & relationships

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Specialty: Medical genetics

Topics to explore

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Overview

Chromosomal disorder

Down syndrome

Diagnosis

Pre-birth Prenatal testing
At birth Newborn screening
Family history Family history (medicine)
Stillbirth
Termination Termination of pregnancy
Prenatal diagnosis
Ultrasound Medical ultrasonography
Invasive procedures Invasiveness of surgical procedures
Amniocentesis

Prognosis

Muscular dystrophy
Quality of life Quality of life (healthcare)
Autonomy
Physical therapy
Pain management

Treatment

Gene therapy

History

Advanced semantic analysis

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Map overview Semantic statistics

Nodes126

Edges125

Triples78

Avg. degree1.98

Density0.015873

Components1

How this topic connects Entity context

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Genetic disorder

Top relations

related to External links · 21

Genetic disorder → Birth Defects, CDC's National Center, CDCOMIM, Developmental DisabilitiesGenetic Disease Information, GARD, Genetic, Genetic Disorders, Genome, Health, Human Genome ProjectGlobal Genes, Man, National Institutes, NIH, Office, Online Mendelian Inheritance, ORD, Project, Public Health Genomics, Rare Diseases, Rare Diseases Information Center

related to Multifactorial disorder · 10

Genetic disorder → Although, Complex, Genetic, Mendelian, Multifactorial, On, One, Studies, There, This

related to Single-gene · 9

Genetic disorder → For, Genomic, Many, Most, Sickle, Single-gene, The, When, X-linked

related to Diagnosis · 7

Genetic disorder → Due, However, Huntington's, Most, Prenatal, The, With

related to Prognosis · 7

Genetic disorder → Down, During, Huntington's, Many, Not, Other, This

has treatment · 6

Genetic disorder → Despite, Finding, Gene, Researchers, The, This

see also · 4

Genetic disorder → FINDbase, Frequency, Genetic, Inherited Disorders

related to Epidemiology · 2

Genetic disorder → Most, Though

Specialty · 1

Genetic disorder → Medical genetics

is a · 1

Genetic disorder → health problem caused by one or more abnormalities in the genome

Important terminology Word statistics

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Important terminology

disorders genetic disorder gene affected x-linked chromosome disease autosomal dominant one recessive also hereditary mutated caused genes inheritance known syndrome

Entity relationships Subject–Predicate–Object triples

Subject	Predicate	Object	Confidence	Src
Genetic disorder	Specialty	Medical genetics	1.00	infobox
Genetic disorder	is a	health problem caused by one or more abnormalities in the genome	0.90	text
tuberculosis or malaria	instance of	carrying one of the faulty genes led to a slight protection against an infectious disease or toxin	0.80	text
incontinentia pigmenti	instance of	although in cases	0.80	text
only female offspring are generally viable	instance of	although in cases	0.80	text
male pattern baldness	instance of	as well as common and less serious conditions	0.80	text
red	instance of	as well as common and less serious conditions	0.80	text
multiple sclerosiscancersciliopathiescleft palatediabetesheart diseasehypertensioninflammatory bowel diseaseintellectual disabilitymood disorderobesityrefractive errorinfertility Chromosomal disorderA chromosomal disorder is a missing	instance of	asthmaautoimmune diseases	0.80	text
extra	instance of	asthmaautoimmune diseases	0.80	text
or irregular portion of chromosomal DNA	instance of	asthmaautoimmune diseases	0.80	text
in amniocentesis	instance of	or detect the presence of characteristic substances via invasive procedures which involve inserting probes or needles into the uterus	0.80	text
muscular dystrophy	instance of	while others result in purely physical symptoms	0.80	text

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