Human Phenotype Ontology 
Grandparent Node:
expand
Morphological abnormality of the gastrointestinal tract (HP:0012718)help
Parent Node:
expand
Abnormal intestine morphology (HP:0002242)help
..Starting node
..expand
Volvulus (HP:0002580)help
Term ID: 2580
Name: Volvulus
Synonym:
Definition: Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
Comments:
Reference: HP:0002580
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal large intestine morphology (HP:0002250) help
..expandAbnormality of enteric nervous system morphology (HP:0025028) help
..expandAbnormality of intestinal smooth muscle morphology (HP:0030935) help
..expandAbnormality of the small intestine (HP:0002244) help
..expandBowel diverticulosis (HP:0005222) help
..expandIntestinal atresia (HP:0011100) help
..expandIntestinal bleeding (HP:0002584) help
..expandIntestinal duplication (HP:0100668) help
..expandIntestinal edema (HP:0005225) help
..expandIntestinal fistula (HP:0100819) help
..expandIntestinal hypoplasia (HP:0005245) help
..expandIntestinal lymphangiectasia (HP:0002593) help
..expandIntestinal lymphoid nodular hyperplasia (HP:0011956) help
..expandIntestinal malrotation (HP:0002566) help
..expandIntestinal obstruction (HP:0005214) help
..expandIntestinal perforation (HP:0031368) help
..expandIntestinal polyp (HP:0005266) help
..expandIntestinal pseudo-obstruction (HP:0004389) help
..expandIntussusception (HP:0002576) help
..expandMalabsorption (HP:0002024) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) 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:0002580HP:0002580Volvulus0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0002580HP:0002580Volvulus0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0002580HP:0002580Volvulus0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0002580HP:0002580Volvulus0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040283 - Occasional4
HP:0002580HP:0002580Volvulus0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0002580HP:0002580Volvulus0FOXF1 CL E G H22943809ORPHA:210122Congenital alveolar capillary dysplasiaHP:0040283 - Occasional61
HP:0002580HP:0002580Volvulus0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0002580HP:0002580Volvulus0MYH11 CL E G H46297569OMIM:619350VISCERAL MYOPATHY 2; VSCM2418
HP:0002580HP:0002580Volvulus0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0002580HP:0002580Volvulus0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0002580HP:0002580Volvulus0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0002580HP:0002580Volvulus0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0002580HP:0002580Volvulus0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0002580HP:0002580Volvulus0TEK CL E G H701011724ORPHA:1059Blue rubber bleb nevusHP:0040282 - Frequent78
HP:0002580HP:0002580Volvulus0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002580HP:0002580Volvulus0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13


Genes (16) :AP1S1 ATRX BRD4 CHRM3 DIS3L2 FOXF1 HDAC8 MYH11 NIPBL PACS1 RAD21 SMC1A SMC3 TEK VARS1 VPS51

Diseases (11) :OMIM:609313 ORPHA:847 ORPHA:199 ORPHA:2970 OMIM:267000 ORPHA:210122 OMIM:619350 OMIM:615009 ORPHA:1059 OMIM:617802 OMIM:618606
 

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