Human Phenotype Ontology 
Grandparent Node:
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Abnormal aortic valve physiology (HP:0031652)help
Parent Node:
expand
Aortic valve stenosis (HP:0001650)help
..Starting node
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Supravalvular aortic stenosis (HP:0004381)help
Term ID: 4381
Name: Supravalvular aortic stenosis
Synonym:
Definition: A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.
Comments:
Reference: HP:0004381
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004381HP:0004381Supravalvular aortic stenosis0ABCG5 CL E G H6424013886ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional67
HP:0004381HP:0004381Supravalvular aortic stenosis0ABCG8 CL E G H6424113887ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional76
HP:0004381HP:0004381Supravalvular aortic stenosis0APOB CL E G H338603ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional356
HP:0004381HP:0004381Supravalvular aortic stenosis0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional45
HP:0004381HP:0004381Supravalvular aortic stenosis0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0ELN CL E G H20063327OMIM:185500Supravalvular aortic stenosis.172
HP:0004381HP:0004381Supravalvular aortic stenosis0ELN CL E G H20063327ORPHA:3193Supravalvular aortic stenosisHP:0040281 - Very frequent172
HP:0004381HP:0004381Supravalvular aortic stenosis0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0004381HP:0004381Supravalvular aortic stenosis0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0004381HP:0004381Supravalvular aortic stenosis0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional63
HP:0004381HP:0004381Supravalvular aortic stenosis0FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA.63
HP:0004381HP:0004381Supravalvular aortic stenosis0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004381HP:0004381Supravalvular aortic stenosis0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004381HP:0004381Supravalvular aortic stenosis0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004381HP:0004381Supravalvular aortic stenosis0LDLR CL E G H39496547ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional2157
HP:0004381HP:0004381Supravalvular aortic stenosis0LDLRAP1 CL E G H2611918640ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional73
HP:0004381HP:0004381Supravalvular aortic stenosis0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional
HP:0004381HP:0004381Supravalvular aortic stenosis0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004381HP:0004381Supravalvular aortic stenosis0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0004381HP:0004381Supravalvular aortic stenosis0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0004381HP:0004381Supravalvular aortic stenosis0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0004381HP:0004381Supravalvular aortic stenosis0PCSK9 CL E G H25573820001ORPHA:391665Homozygous familial hypercholesterolemiaHP:0040283 - Occasional178
HP:0004381HP:0004381Supravalvular aortic stenosis0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0004381HP:0004381Supravalvular aortic stenosis0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0004381HP:0004381Supravalvular aortic stenosis0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent


Genes (30) :ABCG5 ABCG8 APOB BAZ1B BCL7B BUD23 CLIP2 DNAJC30 EFEMP2 EIF4H ELN FBLN5 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 LDLR LDLRAP1 LIMK1 LTBP1 METTL27 MLXIPL NCF1 PCSK9 RFC2 RRAS2 STX1A TBL2 TMEM270 VPS37D

Diseases (8) :ORPHA:391665 ORPHA:904 ORPHA:90349 OMIM:185500 ORPHA:3193 OMIM:194050 OMIM:219100 OMIM:618624
 

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