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 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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002595	HP:0002595	Ileus	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0002595	HP:0002595	Ileus	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0002595	Ileus	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0002595	Ileus	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002595	HP:0002595	Ileus	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002595	HP:0002595	Ileus	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0002595	Ileus	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0002595	Ileus	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0002595	Ileus	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0002595	HP:0002595	Ileus	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002595	HP:0002595	Ileus	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002595	HP:0002595	Ileus	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0002595	HP:0002595	Ileus	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	.	32
HP:0002595	HP:0002595	Ileus	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002595	HP:0002595	Ileus	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0002595	Ileus	0	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0002595	HP:0002595	Ileus	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002595	HP:0002595	Ileus	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0002595	HP:0002595	Ileus	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0002595	HP:0002595	Ileus	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0002595	Ileus	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0002595	Ileus	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0002595	Ileus	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0002595	HP:0002595	Ileus	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0002595	HP:0002595	Ileus	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0002595	HP:0002595	Ileus	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002595	HP:0002595	Ileus	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002595	HP:0002595	Ileus	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002595	HP:0002595	Ileus	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0002595	Ileus	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0002595	HP:0002595	Ileus	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0002595	HP:0002595	Ileus	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002595	HP:0002595	Ileus	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0002595	HP:0002595	Ileus	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent	61
HP:0002595	HP:0002595	Ileus	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0002595	Ileus	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002595	HP:0002595	Ileus	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002595	HP:0002595	Ileus	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent	177
HP:0002595	HP:0010676	Mechanical ileus	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0010676	Mechanical ileus	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0010676	Mechanical ileus	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002595	HP:0010676	Mechanical ileus	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002595	HP:0010676	Mechanical ileus	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0010676	Mechanical ileus	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0010676	Mechanical ileus	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0002590	Paralytic ileus	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0002595	HP:0010676	Mechanical ileus	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002595	HP:0010676	Mechanical ileus	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002595	HP:0010676	Mechanical ileus	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0010676	Mechanical ileus	1	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0002595	HP:0010676	Mechanical ileus	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002595	HP:0002590	Paralytic ileus	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0002595	HP:0010676	Mechanical ileus	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0010676	Mechanical ileus	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0010676	Mechanical ileus	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0002590	Paralytic ileus	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0002595	HP:0002590	Paralytic ileus	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0002595	HP:0010676	Mechanical ileus	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002595	HP:0010676	Mechanical ileus	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002595	HP:0010676	Mechanical ileus	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002595	HP:0010676	Mechanical ileus	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0010676	Mechanical ileus	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002595	HP:0010676	Mechanical ileus	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0010676	Mechanical ileus	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002595	HP:0010676	Mechanical ileus	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002595	HP:0004401	Meconium ileus	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0004401	Meconium ileus	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0004401	Meconium ileus	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002595	HP:0004401	Meconium ileus	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0002595	HP:0004401	Meconium ileus	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0004401	Meconium ileus	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0004401	Meconium ileus	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0004401	Meconium ileus	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0002595	HP:0004401	Meconium ileus	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002595	HP:0004401	Meconium ileus	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0004401	Meconium ileus	2	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus	.	12
HP:0002595	HP:0004401	Meconium ileus	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002595	HP:0004401	Meconium ileus	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0004401	Meconium ileus	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002595	HP:0004401	Meconium ileus	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002595	HP:0004401	Meconium ileus	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002595	HP:0004401	Meconium ileus	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002595	HP:0004401	Meconium ileus	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002595	HP:0004401	Meconium ileus	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0004401	Meconium ileus	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002595	HP:0004401	Meconium ileus	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002595	HP:0004401	Meconium ileus	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002595	HP:0004401	Meconium ileus	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13

Genes (31) :CAVIN1 CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA EWSR1 FAH FCGR2A FOXP3 GCLC GSTM3 GUCY2C HFE HMBS HMOX1 KCNN4 MIF MTRFR PPOX SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC6A8 SLC9A3 SOX10 STX1A TGFB1 WT1

Diseases (17) :OMIM:613327 ORPHA:586 OMIM:219700 ORPHA:83469 OMIM:276700 ORPHA:37042 OMIM:304790 OMIM:614665 ORPHA:79276 OMIM:176000 ORPHA:254930 OMIM:613559 ORPHA:79473 OMIM:300352 ORPHA:52503 OMIM:609136 ORPHA:163746

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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