Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the digestive system (HP:0025031)

Parent Node:
Abnormality of the abdominal organs (HP:0002012)

..Starting node
..Abnormality of mesentery morphology (HP:0100016)

Term ID:

100016

Name:

Abnormality of mesentery morphology

Synonym:

Abnormality of the mesentery

Definition:

Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).

Comments:

Reference:

HP:0100016

Genes and Diseases:

Child Nodes:

........

Mesenteric cyst (HP:0030451)

................... HP:0030452 Chylolymphatic mesenteric cyst

........

Peritoneal mesothelioma (HP:0100003)

Sister Nodes:

Abnormality of abdominal situs (HP:0011620)

Abnormality of the liver (HP:0001392)

Abnormality of the pancreas (HP:0001732)

Abnormality of the peritoneum (HP:0002585)

Abnormality of the spleen (HP:0001743)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100016	HP:0100016	Abnormality of mesentery morphology	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0100016	HP:0100016	Abnormality of mesentery morphology	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	3
HP:0100016	HP:0100016	Abnormality of mesentery morphology	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0100016	HP:0100016	Abnormality of mesentery morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0100016	HP:0100016	Abnormality of mesentery morphology	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent	389
HP:0100016	HP:0100003	Peritoneal mesothelioma	1	CL E G H
HP:0100016	HP:0030451	Mesenteric cyst	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0100016	HP:0030452	Chylolymphatic mesenteric cyst	2	CL E G H

Genes (5) :CHST14 CISD2 DSE TMEM94 WFS1

Diseases (3) :ORPHA:2953 ORPHA:3463 OMIM:618316

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen