Biomaterial Database

[Holt-Oram syndrome]. 1991

C Elek, and M Vitéz, and E Czeizel

Humángenetikai és Teratológiai Osztály, WHO Orökletes Artalmak Társadalmi Megelözése, Együttmüködési Központ, Országos Közegészségügyi Intézet, Budapest.

Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).

UI	MeSH Term	Description	Entries
D012042	Registries	The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.	Parish Registers,Population Register,Parish Register,Population Registers,Register, Parish,Register, Population,Registers, Parish,Registers, Population,Registry
D004812	Epidemiologic Methods	Research techniques that focus on study designs and data gathering methods in human and animal populations.	Epidemiologic Method,Epidemiological Methods,Methods, Epidemiologic,Epidemiological Method,Method, Epidemiologic,Method, Epidemiological,Methods, Epidemiological
D006330	Heart Defects, Congenital	Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.	Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006814	Hungary	A country in Europe, northwest of Romania, south of Slovakia, and east of Austria. The capital is Budapest.
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D001132	Arm	The superior part of the upper extremity between the SHOULDER and the ELBOW.	Brachium,Upper Arm,Arm, Upper,Arms,Arms, Upper,Brachiums,Upper Arms
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D015995	Prevalence	The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.	Period Prevalence,Point Prevalence,Period Prevalences,Point Prevalences,Prevalence, Period,Prevalence, Point,Prevalences