Human Phenotype Ontology 
Grandparent Node:
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Abnormal atrial septum morphology (HP:0011994)help
Grandparent Node:
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Abnormal cardiac atrium morphology (HP:0005120)help
Parent Node:
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Abnormal coronary sinus morphology (HP:0011642)help
Parent Node:
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Atrial septal defect (HP:0001631)help
..Starting node
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Unroofed coronary sinus (HP:0031297)help
Term ID: 31297
Name: Unroofed coronary sinus
Synonym:
Definition: Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.
Comments:
Reference: HP:0031297
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPatent foramen ovale (HP:0001655) help
..expandPrimum atrial septal defect (HP:0010445) help
..expandSecundum atrial septal defect (HP:0001684) help
..expandSinus venosus atrial septal defect (HP:0011567) help
..expandSwiss cheese atrial septal defect (HP:0031017) 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:0031297HP:0031297Unroofed coronary sinus0 CL E G H


Genes (0) :

Diseases (0) :
 

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