Preferred Name

ATRIOVENTRICULAR SEPTAL DEFECT

Synonyms

AVC DEFECT

ID

http://purl.bioontology.org/ontology/OMIM/606215

altLabel

AVC DEFECT

ATRIOVENTRICULAR CANAL DEFECT

AVSD

ENDOCARDIAL CUSHION DEFECT

ECD

AVCD

AVSD1

ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1

cui

C1389018

C0014116

C1389016

C1853513

Gene Locus

1p31-p21

Gene Symbol

AVCD

AVSD1

MIMTYPEMEANING

Mendelian phenotype or locus, molecular basis unknown.

notation

606215

OMIM Entry Type

5

OMIM MimType Value

perc

prefLabel

ATRIOVENTRICULAR SEPTAL DEFECT

tui

T190

T019

T033

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101029 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q21.20 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D004694 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10/Q21.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/Q21.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/LA87.20 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/ICDO_0000576 International Classification of Diseases Ontology / 国际疾病分类本体 LOOM
http://www.orpha.net/ORDO/Orphanet_98722 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0859565 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.obolibrary.org/obo/DOID_0050651 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050651 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C562831 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C562831 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C562831 Medical Subject Headings / 医学主题词表 LOOM