Human Phenotype Ontology

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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 intestine morphology (HP:0002242)

Grandparent Node:
Gastrointestinal obstruction (HP:0004796)

Parent Node:
Gastrointestinal dysmotility (HP:0002579)

Parent Node:
Intestinal obstruction (HP:0005214)

..Starting node
..Ileus (HP:0002595)

Term ID:

2595

Name:

Ileus

Synonym:

Gastrointestinal atony

Definition:

Acute obstruction of the intestines preventing passage of the contents of the intestines.

Comments:

Reference:

HP:0002595

Genes and Diseases:

Child Nodes:

........

Paralytic ileus (HP:0002590)

........

Mechanical ileus (HP:0010676)

................... HP:0004401 Meconium ileus

Sister Nodes:

High intestinal obstruction (HP:0005250)

Neonatal intestinal obstruction (HP:0005234)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002595	HP:0002595	Ileus	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0002595	HP:0002595	Ileus	0	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0002595	HP:0002595	Ileus	0	EWSR1 CL E G H	2130	83469				ORPHA	1	74	3508	133450
HP:0002595	HP:0002595	Ileus	0	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0002595	HP:0002595	Ileus	0	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0002595	HP:0002595	Ileus	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002595	HP:0002595	Ileus	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0002595	HP:0002595	Ileus	0	SOX10 CL E G H	6663	163746				ORPHA	1	378	11190	602229
HP:0002595	HP:0002595	Ileus	0	WT1 CL E G H	7490	83469				ORPHA	1	1371	12796	607102
HP:0002595	HP:0010676	Mechanical ileus	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0002595	HP:0002590	Paralytic ileus	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0002595	HP:0010676	Mechanical ileus	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0002595	HP:0002590	Paralytic ileus	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0002595	HP:0010676	Mechanical ileus	1	EWSR1 CL E G H	2130	83469				ORPHA	1	74	3508	133450
HP:0002595	HP:0002590	Paralytic ileus	1	EWSR1 CL E G H	2130	83469				ORPHA	1	74	3508	133450
HP:0002595	HP:0010676	Mechanical ileus	1	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0002595	HP:0002590	Paralytic ileus	1	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0002595	HP:0010676	Mechanical ileus	1	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0002595	HP:0002590	Paralytic ileus	1	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0002595	HP:0010676	Mechanical ileus	1	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002595	HP:0002590	Paralytic ileus	1	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002595	HP:0010676	Mechanical ileus	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0002595	HP:0002590	Paralytic ileus	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0002595	HP:0010676	Mechanical ileus	1	SOX10 CL E G H	6663	163746				ORPHA	1	378	11190	602229
HP:0002595	HP:0002590	Paralytic ileus	1	SOX10 CL E G H	6663	163746				ORPHA	1	378	11190	602229
HP:0002595	HP:0010676	Mechanical ileus	1	WT1 CL E G H	7490	83469				ORPHA	1	1371	12796	607102
HP:0002595	HP:0002590	Paralytic ileus	1	WT1 CL E G H	7490	83469				ORPHA	1	1371	12796	607102
HP:0002595	HP:0004401	Meconium ileus	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	128	9688	603198
HP:0002595	HP:0004401	Meconium ileus	2	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0002595	HP:0004401	Meconium ileus	2	EWSR1 CL E G H	2130	83469				ORPHA	1	74	3508	133450
HP:0002595	HP:0004401	Meconium ileus	2	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0002595	HP:0004401	Meconium ileus	2	FOXP3 CL E G H	50943	304790	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	304790	C0342288	OMIM	1	443	6106	300292
HP:0002595	HP:0004401	Meconium ileus	2	SLC6A8 CL E G H	6535	52503				ORPHA	1	1062	11055	300036
HP:0002595	HP:0004401	Meconium ileus	2	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0002595	HP:0004401	Meconium ileus	2	SOX10 CL E G H	6663	163746				ORPHA	1	378	11190	602229
HP:0002595	HP:0004401	Meconium ileus	2	WT1 CL E G H	7490	83469				ORPHA	1	1371	12796	607102
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (13) :C12ORF65 CAVIN1 CFTR EFEMP2 EWSR1 FAH FBLN5 FOXP3 GUCY2C HMBS SLC6A8 SOX10 WT1

Diseases (12) :613327 90349 83469 304790 52503 300352 163746 613559 276700 176000 219700 614665

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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