Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the abdominal wall (HP:0004298)help
Parent Node:
expandAbdominal wall defect (HP:0010866)help
..Starting node
..expandGastroschisis (HP:0001543)help
Term ID: 1543
Name: Gastroschisis
Synonym:
Definition: A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.
Comments:
Reference: HP:0001543
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCloacal abnormality (HP:0012620) help
..expandHernia of the abdominal wall (HP:0004299) help
..expandThoracoabdominal wall defect (HP:0100656) 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:0001543HP:0001543Gastroschisis0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0001543HP:0001543Gastroschisis0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0001543HP:0001543Gastroschisis0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12


Genes (3) :DHCR7 SF3B4 WNT3

Diseases (3) :ORPHA:818 OMIM:154400 OMIM:273395
 

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