Human Phenotype Ontology

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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:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Gastrointestinal dysmotility (HP:0002579)

..Starting node
..Intestinal pseudo-obstruction (HP:0004389)

Term ID:

4389

Name:

Intestinal pseudo-obstruction

Synonym:

Intestinal pseudoobstruction

Definition:

A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.

Comments:

Reference:

HP:0004389

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal peristalsis (HP:0030914)

Ileus (HP:0002595)

Small intestinal dysmotility (HP:0012850)

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:0004389	HP:0004389	Intestinal pseudo-obstruction	0	ACTG2 CL E G H	72	155310	Visceral myopathy	155310	C1835084	OMIM	1	88	145	102545
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	BRCA1 CL E G H	672	1333	Chromosome 19, ring		CN036553	ORPHA	1	13955	1100	113705
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	BRCA2 CL E G H	675	1333	Chromosome 19, ring		CN036553	ORPHA	1	17543	1101	600185
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	CDKN2A CL E G H	1029	1333	Chromosome 19, ring		CN036553	ORPHA	1	1305	1787	600160
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	FLNA CL E G H	2316	300048	Intestinal pseudoobstruction neuronal chronic idiopathic X-linked	300048	C2746068	OMIM	1	3033	3754	300017
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	KRAS CL E G H	3845	1333	Chromosome 19, ring		CN036553	ORPHA	1	480	6407	190070
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	PALB2 CL E G H	79728	1333	Chromosome 19, ring		CN036553	ORPHA	1	5225	26144	610355
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	PALLD CL E G H	23022	1333	Chromosome 19, ring		CN036553	ORPHA	1	1741	17068	608092
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	RAD21 CL E G H	5885	611376	Mungan syndrome	611376	C1969653	OMIM	1	352	9811	606462
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	SMAD4 CL E G H	4089	1333	Chromosome 19, ring		CN036553	ORPHA	1	1898	6770	600993
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TP53 CL E G H	7157	1333	Chromosome 19, ring		CN036553	ORPHA	1	2977	11998	191170
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	POLG CL E G H	5428	70595				ORPHA	0	2324	9179	174763
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TWNK CL E G H	56652	70595				ORPHA	0	450	1160	606075

Genes (14) :ACTG2 BRCA1 BRCA2 CDKN2A FLNA IDS KRAS PALB2 PALLD POLG RAD21 SMAD4 TP53 TWNK

Diseases (7) :155310 1333 300048 309900 70595 607459 611376

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

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