Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal systemic arterial morphology (HP:0011004)help
Parent Node:
expand
Abnormal coronary artery morphology (HP:0006704)help
..Starting node
..expand
Coronary artery stenosis (HP:0005145)help
Term ID: 5145
Name: Coronary artery stenosis
Synonym: Narrowing of coronary artery
Definition: Abnormal narrowing of the coronary artery.
Comments:
Reference: HP:0005145
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal coronary artery course (HP:0011686) help
..expandAbnormal coronary artery origin (HP:0011636) help
..expandCoronary artery aneurysm (HP:0030882) help
..expandCoronary artery atherosclerosis (HP:0001677) help
..expandCoronary artery calcification (HP:0001717) help
..expandCoronary artery dissection (HP:0006702) help
..expandGranulomatous coronary arteritis (HP:0006679) help
..expandIntimal thickening in the coronary arteries (HP:0005292) 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:0005145HP:0005145Coronary artery stenosis0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0005145HP:0005145Coronary artery stenosis0DYRK1B CL E G H91493092OMIM:615812Abdominal obesity-metabolic syndrome 3.7
HP:0005145HP:0005145Coronary artery stenosis0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0005145HP:0005145Coronary artery stenosis0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0005145HP:0005145Coronary artery stenosis0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040282 - Frequent65
HP:0005145HP:0005145Coronary artery stenosis0YY1AP1 CL E G H5524930935OMIM:602531Grange syndromeHP:0040283 - Occasional5


Genes (6) :ABCA1 DYRK1B ELN MLXIPL PNPLA2 YY1AP1

Diseases (5) :ORPHA:31150 OMIM:615812 OMIM:194050 ORPHA:565612 OMIM:602531
 

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