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:
Abnormal gastrointestinal motility (HP:0030895)

Parent Node:
Abnormality of the small intestine (HP:0002244)

Parent Node:
Gastrointestinal dysmotility (HP:0002579)

..Starting node
..Small intestinal dysmotility (HP:0012850)

Term ID:

12850

Name:

Small intestinal dysmotility

Synonym:

Definition:

Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.

Comments:

Reference:

HP:0012850

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal peristalsis (HP:0030914)

Ileus (HP:0002595)

Intestinal pseudo-obstruction (HP:0004389)

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:0012850	HP:0012850	Small intestinal dysmotility	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0012850	HP:0012850	Small intestinal dysmotility	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	1
HP:0012850	HP:0012850	Small intestinal dysmotility	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0012850	HP:0012850	Small intestinal dysmotility	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	464
HP:0012850	HP:0012850	Small intestinal dysmotility	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	125
HP:0012850	HP:0012850	Small intestinal dysmotility	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	138

Genes (6) :CPOX LIG3 MYO1H POLG RRM2B TYMP

Diseases (3) :ORPHA:79273 ORPHA:298 OMIM:619482

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