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 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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	5769
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	7642
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	289
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	196
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	1349
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	192
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	464
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.	25
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	504
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	911
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional	113
HP:0004389	HP:0004389	Intestinal pseudo-obstruction	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138

Genes (35) :ACTG2 BRCA1 BRCA2 CDKN2A COX1 COX2 COX3 ERBB3 FLNA HNRNPK IDS KRAS LIG3 MYH11 ND1 ND4 ND5 ND6 PALB2 PALLD POLG RABL3 RAD21 SMAD4 SMO TP53 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TWNK TYMP

Diseases (16) :OMIM:155310 ORPHA:1333 ORPHA:550 OMIM:243180 OMIM:300048 ORPHA:352665 ORPHA:453504 OMIM:309900 OMIM:619780 OMIM:619350 OMIM:603041 OMIM:613662 OMIM:607459 ORPHA:70595 OMIM:611376 OMIM:601707

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

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