Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

ATRIOVENTRICULAR SEPTAL DEFECT
Synonyms

AVCD

ECD

AVSD

AVC DEFECT

ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1

ATRIOVENTRICULAR CANAL DEFECT

ENDOCARDIAL CUSHION DEFECT

AVSD1
ID

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

AVCD

ECD

AVSD

AVC DEFECT

ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1

ATRIOVENTRICULAR CANAL DEFECT

ENDOCARDIAL CUSHION DEFECT

AVSD1
cui

C1389016

C1389018

C1853513

C0014116
Gene Locus

1p31-p21
Gene Symbol

AVSD1

AVCD
MIMTYPEMEANING

Mendelian phenotype or locus, molecular basis unknown.
Moved from

600309
notation

606215
OMIM Entry Type

5
OMIM MimType Value

perc
prefLabel

ATRIOVENTRICULAR SEPTAL DEFECT
tui

T033

T019

T190
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C562831 MESH CUI
http://purl.bioontology.org/ontology/MESH/C562831 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001094 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10063836 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X77wc RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10063836 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/Q21.2 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10063836 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/253414002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D004694 MESH CUI
http://purl.bioontology.org/ontology/ICD9CM/745.60 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10014658 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.20 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D004694 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/15459006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10057460 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10014658 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10014656 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10057460 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10014656 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10057460 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/15459006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10014656 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D4-31300 SNMI CUI
http://purl.bioontology.org/ontology/ICD9CM/745.6 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10014658 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0859565 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050651 DOID LOOM
http://purl.bioontology.org/ontology/MESH/C562831 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063836 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_98722 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0020290 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_0050651 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050651 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050651 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050651 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050651 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050651 FNS-H LOOM
http://purl.jp/bio/4/id/200906052749727574 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C101029 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Atrioventricular_Septal_Defect CSEO LOOM
http://homes.esat.kuleuven.be/~bioiuser/chdwiki/index.php/CHDEPCC:060600 CHD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0344783 OCHV LOOM
http://purl.obolibrary.org/obo/MP_0010412 MP LOOM
http://purl.obolibrary.org/obo/MP_0010412 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0010412 CHIRO LOOM
http://purl.bioontology.org/ontology/ICD10/Q21.2 ICD10 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101029 NCIT LOOM
http://purl.obolibrary.org/obo/ICDO_0000576 ICDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562831 RH-MESH LOOM