About: Genetic Disorder

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

Attributes	Values
rdf:type	Class
rdfs:label	Genetic Disorder
rdfs:subClassOf	Disease
Has_NICHD_Parent	Disease
Concept_In_Subset	NICHD Terminology NICHD Pediatric Terminology Neonatal Research Network Terminology
Semantic_Type	Congenital Abnormality Disease or Syndrome
Preferred_Name	Genetic Disorder
UMLS_CUI	C0019247
Contributing_Source	NICHD
Legacy_Concept_Name	Genetic_Disorder
FULL_SYN	Genetic DisorderPTNCI Inherited DiseaseSYNCI Genetic ConditionSYNCI Molecular DiseaseSYNCI Genetic DisorderPTNICHD Hereditary DiseasesSYNCI Genetic DisorderSYNCITCGA Hereditary DiseaseSYNICHD
DEFINITION	Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.NCI
code	C3101
is rdf:first of	nodeID://b730313
is rdfs:subClassOf of	Laurence-Moon Syndrome Maple Syrup Urine Disease Hyperimmunoglobulin Syndrome Congenital Combined Immunodeficiency Congenital T-Cell Immunodeficiency Congenital Disorder of Natural Immunity Cystic Fibrosis Cystinosis Down Syndrome Fanconi Syndrome Neoplastic Syndromes, Hereditary Chromosome Disorders Congenital Leucocyte Abnormality Granular Corneal Dystrophy Telangiectasia, Hereditary Hemorrhagic Dihydrouracil Dehydrogenase Deficiency Trichothiodystrophy DNA Repair Disorder X-Linked Inherited Disorder Autosomal Recessive Inherited Disorder Cockayne Syndrome Autosomal Dominant Inherited Disorder
is Has_NICHD_Parent of	Van der Woude Syndrome Mandibulofacial Dysostosis Pallister-Killian Syndrome Menkes Kinky Hair Syndrome Klippel-Trenaunay-Weber Syndrome Mobius Syndrome Oculocerebrorenal Syndrome Scimitar Syndrome Smith-Lemli-Opitz Syndrome Waardenburg Syndrome Williams Syndrome TORCH Syndrome Klippel-Feil Syndrome Meckel-Gruber Syndrome MMIH Syndrome Mitochondrial Trifunctional Protein Deficiency Thrombocytopenia-Absent Radius Syndrome Townes-Brocks Syndrome Androgen-Insensitivity Syndrome Chromosome Aberrations DiGeorge Syndrome Sturge-Weber Syndrome Beckwith-Wiedemann Syndrome Alagille Syndrome Potter Syndrome Stickler Syndrome Split-Hand/Foot Malformation Dandy-Walker Syndrome De Lange Syndrome Sotos Syndrome CHARGE Syndrome Angelman Syndrome Prader-Willi Syndrome Rubinstein-Taybi Syndrome Barth Syndrome Congenital Disorders of Glycosylation Ectodermal Dysplasia Ellis-Van Creveld Syndrome Pierre Robin Syndrome Poland Syndrome Prune Belly Syndrome Silver-Russell Syndrome Autosomal Recessive Inherited Disorder Factor V Leiden Mutation Autosomal Dominant Inherited Disorder Congenital Central Hypoventilation Syndrome Hypoplastic Left Heart Syndrome Pena-Shokeir Syndrome Hypoplastic Right Heart Syndrome Tethered Spinal Cord Syndrome Arakawa's Syndrome II

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