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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Muscular ventricular septal defect (HP:0011623)help
Term ID: 11623
Name: Muscular ventricular septal defect
Synonym: Type 4 ventricular septal defect; Ventricular septal defect, muscular
Definition: The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
Comments:
Reference: HP:0011623
Genes and Diseases:
 
       Child Nodes:
........expandApical muscular ventricular septal defect (HP:0011624) help
........expandMultiple muscular ventricular septal defects (HP:0011625) help

 Sister Nodes: 
..expandGerbode ventricular septal defect (HP:0011621) help
..expandInlet ventricular septal defect (HP:0011622) help
..expandNon-restrictive ventricular septal defect (HP:0011684) help
..expandPerimembranous ventricular septal defect (HP:0011682) 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:0011623HP:0011623Muscular ventricular septal defect0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040284 - Very rare68
HP:0011623HP:0011623Muscular ventricular septal defect0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0011623HP:0011623Muscular ventricular septal defect0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0011623HP:0011623Muscular ventricular septal defect0DPH2 CL E G H18023004OMIM:620062
HP:0011623HP:0011623Muscular ventricular septal defect0DPH5 CL E G H5161124270OMIM:620070
HP:0011623HP:0011623Muscular ventricular septal defect0GATA6 CL E G H26274174OMIM:614474Atrioventricular septal defect 5.37
HP:0011623HP:0011623Muscular ventricular septal defect0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0011623HP:0011623Muscular ventricular septal defect0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0011623HP:0011623Muscular ventricular septal defect0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011623HP:0011623Muscular ventricular septal defect0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0011623HP:0011623Muscular ventricular septal defect0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 41143
HP:0011623HP:0011623Muscular ventricular septal defect0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0011623HP:0011623Muscular ventricular septal defect0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0011623HP:0011623Muscular ventricular septal defect0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0011623HP:0011623Muscular ventricular septal defect0PLD1 CL E G H53379067OMIM:212093Cardiac valvular defect, developmental4
HP:0011623HP:0011623Muscular ventricular septal defect0PSMC1 CL E G H57009547OMIM:6200711
HP:0011623HP:0011623Muscular ventricular septal defect0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0011623HP:0011623Muscular ventricular septal defect0RPL3L CL E G H612310351OMIM:619371CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0011623HP:0011623Muscular ventricular septal defect0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011623HP:0011623Muscular ventricular septal defect0THOC6 CL E G H7922828369ORPHA:363444THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeHP:0040283 - Occasional1
HP:0011623HP:0011623Muscular ventricular septal defect0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011623HP:0011624Apical muscular ventricular septal defect1 CL E G H
HP:0011623HP:0011625Multiple muscular ventricular septal defects1DPH5 CL E G H5161124270OMIM:620070
HP:0011623HP:0011625Multiple muscular ventricular septal defects1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040283 - Occasional35


Genes (21) :ALG12 ATP6V0A2 DNAJC19 DPH2 DPH5 GATA6 GJA5 GJA8 GNB2 MAP3K7 MYBPC3 MYCN NSD1 NUP188 PLD1 PSMC1 RNU4ATAC RPL3L SVBP THOC6 WBP11

Diseases (20) :ORPHA:79324 OMIM:278250 ORPHA:66634 OMIM:620062 OMIM:620070 OMIM:614474 OMIM:612474 OMIM:619503 OMIM:157800 OMIM:115197 ORPHA:391641 OMIM:117550 OMIM:618804 OMIM:212093 OMIM:620071 OMIM:210710 OMIM:619371 OMIM:618569 ORPHA:363444 OMIM:619227
 

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