Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/600123
http://purl.bioontology.org/ontology/OMIM/600123
Preferred Name

ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS
Type http://www.w3.org/2002/07/owl#Class

All Properties

prefLabel
ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU006615
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU000848
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU004590
http://purl.bioontology.org/ontology/OMIM/MTHU001447
http://purl.bioontology.org/ontology/OMIM/MTHU065555
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU000508
http://purl.bioontology.org/ontology/OMIM/MTHU005530
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU036361
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU006613
http://purl.bioontology.org/ontology/OMIM/MTHU004139
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU006612
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU000264
http://purl.bioontology.org/ontology/OMIM/MTHU006614
http://purl.bioontology.org/ontology/OMIM/MTHU000821
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tui
T047
MIMTYPEMEANING
Other, mainly phenotypes with suspected mendelian basis
notation
600123
Semantic type UMLS property
Has inheritance type
cui
C1838606
OMIM Entry Type
0
OMIM MimType Value
none
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