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:
Functional abnormality of the gastrointestinal tract (HP:0012719)

Parent Node:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Gastrointestinal obstruction (HP:0004796)

..Starting node
..Intestinal obstruction (HP:0005214)

Term ID:

5214

Name:

Intestinal obstruction

Synonym:

Bowel obstruction; Intestinal blockage; Intestinal obstruction

Definition:

Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.

Comments:

Reference:

HP:0005214

Genes and Diseases:

Child Nodes:

........

Ileus (HP:0002595)

................... HP:0002590 Paralytic ileus
................... HP:0010676 Mechanical ileus

........

Neonatal intestinal obstruction (HP:0005234)

........

High intestinal obstruction (HP:0005250)

Sister Nodes:

Esophageal obstruction (HP:0005240)

Functional intestinal obstruction (HP:0005249)

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:0005214	HP:0005214	Intestinal obstruction	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	135
HP:0005214	HP:0005214	Intestinal obstruction	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	3179
HP:0005214	HP:0005214	Intestinal obstruction	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	192
HP:0005214	HP:0005214	Intestinal obstruction	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	1
HP:0005214	HP:0005214	Intestinal obstruction	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0005214	HP:0005214	Intestinal obstruction	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0005214	HP:0005214	Intestinal obstruction	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0005214	Intestinal obstruction	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0005214	Intestinal obstruction	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0005214	HP:0005214	Intestinal obstruction	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0005214	HP:0005214	Intestinal obstruction	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0005214	Intestinal obstruction	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0005214	HP:0005214	Intestinal obstruction	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional	88
HP:0005214	HP:0005214	Intestinal obstruction	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0005214	Intestinal obstruction	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	13
HP:0005214	HP:0005214	Intestinal obstruction	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	67
HP:0005214	HP:0005214	Intestinal obstruction	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	67
HP:0005214	HP:0005214	Intestinal obstruction	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0005214	Intestinal obstruction	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	55
HP:0005214	HP:0005214	Intestinal obstruction	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	55
HP:0005214	HP:0005214	Intestinal obstruction	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	77
HP:0005214	HP:0005214	Intestinal obstruction	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	12
HP:0005214	HP:0005214	Intestinal obstruction	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0005214	HP:0005214	Intestinal obstruction	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0005214	HP:0005214	Intestinal obstruction	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0005214	HP:0005214	Intestinal obstruction	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0005214	HP:0005214	Intestinal obstruction	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	159
HP:0005214	HP:0005214	Intestinal obstruction	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0005214	HP:0005214	Intestinal obstruction	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0005214	HP:0005214	Intestinal obstruction	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0005214	HP:0005214	Intestinal obstruction	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0005214	HP:0005214	Intestinal obstruction	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0005214	Intestinal obstruction	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	59
HP:0005214	HP:0005214	Intestinal obstruction	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0005214	Intestinal obstruction	0	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0005214	HP:0005214	Intestinal obstruction	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0005214	HP:0005214	Intestinal obstruction	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0005214	HP:0005214	Intestinal obstruction	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0005214	HP:0005214	Intestinal obstruction	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0005214	HP:0005214	Intestinal obstruction	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0005214	HP:0005214	Intestinal obstruction	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0005214	Intestinal obstruction	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0005214	HP:0005214	Intestinal obstruction	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional	57
HP:0005214	HP:0005214	Intestinal obstruction	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type	.	140
HP:0005214	HP:0005214	Intestinal obstruction	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0005214	Intestinal obstruction	0	KIT CL E G H	3815	6342	OMIM:606764	Gastrointestinal stromal tumor	.	327
HP:0005214	HP:0005214	Intestinal obstruction	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	327
HP:0005214	HP:0005214	Intestinal obstruction	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0005214	HP:0005214	Intestinal obstruction	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0005214	Intestinal obstruction	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	91
HP:0005214	HP:0005214	Intestinal obstruction	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0005214	HP:0005214	Intestinal obstruction	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0005214	HP:0005214	Intestinal obstruction	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional	150
HP:0005214	HP:0005214	Intestinal obstruction	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0005214	HP:0005214	Intestinal obstruction	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0005214	HP:0005214	Intestinal obstruction	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0005214	HP:0005214	Intestinal obstruction	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	144
HP:0005214	HP:0005214	Intestinal obstruction	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	4
HP:0005214	HP:0005214	Intestinal obstruction	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	337
HP:0005214	HP:0005214	Intestinal obstruction	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	28
HP:0005214	HP:0005214	Intestinal obstruction	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0005214	HP:0005214	Intestinal obstruction	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0005214	HP:0005214	Intestinal obstruction	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0005214	HP:0005214	Intestinal obstruction	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	572
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	304
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	237
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHB CL E G H	6390	10681	OMIM:606764	Gastrointestinal stromal tumor	.	237
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	237
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	147
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040282 - Frequent	147
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHC CL E G H	6391	10682	OMIM:606764	Gastrointestinal stromal tumor	.	147
HP:0005214	HP:0005214	Intestinal obstruction	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	129
HP:0005214	HP:0005214	Intestinal obstruction	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0005214	HP:0005214	Intestinal obstruction	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	2
HP:0005214	HP:0005214	Intestinal obstruction	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0005214	HP:0005214	Intestinal obstruction	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0005214	Intestinal obstruction	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0005214	HP:0005214	Intestinal obstruction	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0005214	Intestinal obstruction	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0005214	HP:0005214	Intestinal obstruction	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0005214	HP:0005214	Intestinal obstruction	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0005214	HP:0005214	Intestinal obstruction	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	22
HP:0005214	HP:0005214	Intestinal obstruction	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0005214	HP:0005214	Intestinal obstruction	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0005214	HP:0005214	Intestinal obstruction	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent	61
HP:0005214	HP:0005214	Intestinal obstruction	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0005214	HP:0005214	Intestinal obstruction	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0005214	HP:0005214	Intestinal obstruction	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0005214	Intestinal obstruction	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0005214	HP:0005214	Intestinal obstruction	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0005214	HP:0005214	Intestinal obstruction	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0005214	HP:0005214	Intestinal obstruction	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0005214	HP:0005214	Intestinal obstruction	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0005214	HP:0005214	Intestinal obstruction	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor		177
HP:0005214	HP:0005250	High intestinal obstruction	1	CL E G H
HP:0005214	HP:0005234	Neonatal intestinal obstruction	1	CL E G H
HP:0005214	HP:0002595	Ileus	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0005214	HP:0002595	Ileus	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0002595	Ileus	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0002595	Ileus	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0005214	HP:0002595	Ileus	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0005214	HP:0002595	Ileus	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0002595	Ileus	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0002595	Ileus	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0002595	Ileus	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0005214	HP:0002595	Ileus	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0005214	HP:0002595	Ileus	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0005214	HP:0002595	Ileus	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0005214	HP:0002595	Ileus	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	.	32
HP:0005214	HP:0002595	Ileus	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0002595	Ileus	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0002595	Ileus	1	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0005214	HP:0002595	Ileus	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0005214	HP:0002595	Ileus	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0005214	HP:0002595	Ileus	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent		81
HP:0005214	HP:0002595	Ileus	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0002595	Ileus	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0002595	Ileus	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0002595	Ileus	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0005214	HP:0002595	Ileus	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0005214	HP:0002595	Ileus	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0005214	HP:0002595	Ileus	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0005214	HP:0002595	Ileus	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0002595	Ileus	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0005214	HP:0002595	Ileus	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0002595	Ileus	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0005214	HP:0002595	Ileus	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0005214	HP:0002595	Ileus	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0005214	HP:0002595	Ileus	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0005214	HP:0002595	Ileus	1	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:0005214	HP:0002595	Ileus	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0002595	Ileus	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0005214	HP:0002595	Ileus	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0005214	HP:0002595	Ileus	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent	177
HP:0005214	HP:0010676	Mechanical ileus	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0010676	Mechanical ileus	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0010676	Mechanical ileus	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0005214	HP:0010676	Mechanical ileus	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0005214	HP:0010676	Mechanical ileus	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0010676	Mechanical ileus	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0010676	Mechanical ileus	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0002590	Paralytic ileus	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0005214	HP:0010676	Mechanical ileus	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0005214	HP:0010676	Mechanical ileus	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0010676	Mechanical ileus	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0010676	Mechanical ileus	2	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus		12
HP:0005214	HP:0010676	Mechanical ileus	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0005214	HP:0002590	Paralytic ileus	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0005214	HP:0010676	Mechanical ileus	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0010676	Mechanical ileus	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0010676	Mechanical ileus	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0002590	Paralytic ileus	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0005214	HP:0002590	Paralytic ileus	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0005214	HP:0010676	Mechanical ileus	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0005214	HP:0010676	Mechanical ileus	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0010676	Mechanical ileus	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0005214	HP:0010676	Mechanical ileus	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0010676	Mechanical ileus	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0005214	HP:0010676	Mechanical ileus	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0010676	Mechanical ileus	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0005214	HP:0010676	Mechanical ileus	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0005214	HP:0004401	Meconium ileus	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0004401	Meconium ileus	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0004401	Meconium ileus	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0005214	HP:0004401	Meconium ileus	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0005214	HP:0004401	Meconium ileus	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0004401	Meconium ileus	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0004401	Meconium ileus	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0004401	Meconium ileus	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0005214	HP:0004401	Meconium ileus	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0004401	Meconium ileus	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0004401	Meconium ileus	3	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus	.	12
HP:0005214	HP:0004401	Meconium ileus	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0005214	HP:0004401	Meconium ileus	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0004401	Meconium ileus	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0005214	HP:0004401	Meconium ileus	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0005214	HP:0004401	Meconium ileus	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0005214	HP:0004401	Meconium ileus	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0005214	HP:0004401	Meconium ileus	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0005214	HP:0004401	Meconium ileus	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0004401	Meconium ileus	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0005214	HP:0004401	Meconium ileus	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0005214	HP:0004401	Meconium ileus	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0005214	HP:0004401	Meconium ileus	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13

Genes (79) :ABCD1 APC ATP7A CALR CAVIN1 CD55 CEACAM3 CEACAM6 CFTR CLCA4 CTLA4 CTNNB1 DCTN4 ECE1 EDN3 EDNRA EDNRB ERBB2 ERBB3 ERCC2 EWSR1 EXT1 EXT2 F5 FAH FCGR2A FOXP3 GCLC GDNF GSTM3 GUCY2C HFE HLA-DPA1 HLA-DPB1 HMBS HMOX1 IL6 JAK2 JAK3 KCNN4 KIT MEFV MIF MITF MTRFR MVK MYC MYH11 NOD2 NOTCH3 NRTN PDGFRA PDGFRB PPOX PRTN3 PTPN22 RET SDHA SDHB SDHC SDHD SEMA3C SEMA3D SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC6A8 SLC9A3 SMO SOX10 SREBF1 STK11 STX1A TBCE TGFB1 TNFRSF1A TTC7A WT1

Diseases (39) :ORPHA:388 ORPHA:873 ORPHA:131 OMIM:613327 OMIM:226300 ORPHA:586 OMIM:219700 ORPHA:900 ORPHA:897 OMIM:601675 ORPHA:83469 ORPHA:321 OMIM:276700 ORPHA:37042 OMIM:304790 OMIM:614665 ORPHA:79276 OMIM:176000 OMIM:266600 OMIM:600802 OMIM:606764 ORPHA:44890 ORPHA:342 ORPHA:254930 OMIM:613559 ORPHA:343 ORPHA:543 OMIM:619350 ORPHA:2591 ORPHA:79473 ORPHA:97286 OMIM:300352 ORPHA:52503 OMIM:609136 ORPHA:163746 ORPHA:2869 ORPHA:2323 ORPHA:32960 OMIM:243150

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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