Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cardiac septum morphology (HP:0001671)help
Parent Node:
expandAtrial septal defect (HP:0001631)help
Parent Node:
expandAtrioventricular canal defect (HP:0006695)help
..Starting node
..expandPrimum atrial septal defect (HP:0010445)help
Term ID: 10445
Name: Primum atrial septal defect
Synonym: Atrial septal defect, primum type; Ostium primum atrial septal defect; Primum atrioventricular canal defect; Septum primum defect
Definition: An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.
Comments:
Reference: HP:0010445
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandComplete atrioventricular canal defect (HP:0001674) help
..expandIntermediate atrioventricular canal defect (HP:0011576) help
..expandPartial atrioventricular canal defect (HP:0011577) help
..expandTransitional atrioventricular canal defect (HP:0011578) help
..expandUnbalanced atrioventricular canal defect (HP:0011579) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010445HP:0010445Primum atrial septal defect0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0010445HP:0010445Primum atrial septal defect0ERCC4 CL E G H20723436OMIM:615272Fanconi anemia, complementation group Q158
HP:0010445HP:0010445Primum atrial septal defect0GATA4 CL E G H26264173OMIM:614430Atrioventricular septal defect 4.87
HP:0010445HP:0010445Primum atrial septal defect0GJA1 CL E G H26974274OMIM:600309Atrioventricular septal defect 3.68
HP:0010445HP:0010445Primum atrial septal defect0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS


Genes (5) :CFAP45 ERCC4 GATA4 GJA1 TTC26

Diseases (5) :OMIM:619608 OMIM:615272 OMIM:614430 OMIM:600309 OMIM:619534
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.