Human Phenotype Ontology 
Grandparent Node:
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Abnormal ventricular septum morphology (HP:0010438)help
Parent Node:
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Ventricular septal defect (HP:0001629)help
..Starting node
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Perimembranous ventricular septal defect (HP:0011682)help
Term ID: 11682
Name: Perimembranous ventricular septal defect
Synonym: Conoventricular ventricular septal defect; Membranous ventricular septal defect; Paramembranous ventricular septal defect; Perimembraneous ventricular septal defect; Type 2 ventricular septal defect; Ventricular septal defect, perimembranous
Definition: A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
Comments:
Reference: HP:0011682
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGerbode ventricular septal defect (HP:0011621) help
..expandInlet ventricular septal defect (HP:0011622) help
..expandMuscular ventricular septal defect (HP:0011623) help
..expandNon-restrictive ventricular septal defect (HP:0011684) help
..expandRestrictive ventricular septal defect (HP:0011683) help
..expandSubarterial ventricular septal defect (HP:0011681) 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:0011682HP:0011682Perimembranous ventricular septal defect0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0011682HP:0011682Perimembranous ventricular septal defect0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0011682HP:0011682Perimembranous ventricular septal defect0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0011682HP:0011682Perimembranous ventricular septal defect0CALM3 CL E G H8081449OMIM:618782LONG QT SYNDROME 16; LQT1616
HP:0011682HP:0011682Perimembranous ventricular septal defect0CITED2 CL E G H103701987OMIM:614431Ventricular septal defect 2.5
HP:0011682HP:0011682Perimembranous ventricular septal defect0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0011682HP:0011682Perimembranous ventricular septal defect0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0011682HP:0011682Perimembranous ventricular septal defect0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects37
HP:0011682HP:0011682Perimembranous ventricular septal defect0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0011682HP:0011682Perimembranous ventricular septal defect0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0011682HP:0011682Perimembranous ventricular septal defect0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7
HP:0011682HP:0011682Perimembranous ventricular septal defect0MYH7 CL E G H46257577OMIM:613426Cardiomyopathy, dilated, 1S1269
HP:0011682HP:0011682Perimembranous ventricular septal defect0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0011682HP:0011682Perimembranous ventricular septal defect0NDUFB7 CL E G H47137702OMIM:620135
HP:0011682HP:0011682Perimembranous ventricular septal defect0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0011682HP:0011682Perimembranous ventricular septal defect0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0011682HP:0011682Perimembranous ventricular septal defect0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0011682HP:0011682Perimembranous ventricular septal defect0RAD21 CL E G H58859811OMIM:611376Mungan syndrome.25
HP:0011682HP:0011682Perimembranous ventricular septal defect0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0011682HP:0011682Perimembranous ventricular septal defect0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1


Genes (20) :ALG8 ATRX BMP2 CALM3 CITED2 CREBBP EP300 GATA6 GJA5 GJA8 MEIS2 MYH7 NAA10 NDUFB7 NDUFC2 NUP188 PUF60 RAD21 SEC31A THOC6

Diseases (18) :OMIM:608104 OMIM:301040 OMIM:617877 OMIM:618782 OMIM:614431 OMIM:180849 OMIM:600001 OMIM:612474 OMIM:600987 OMIM:613426 OMIM:300855 OMIM:620135 OMIM:619170 OMIM:618804 ORPHA:508498 OMIM:611376 OMIM:618651 ORPHA:363444
 

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