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:
Ileus (HP:0002595)

Parent Node:
Mechanical ileus (HP:0010676)

..Starting node
..Meconium ileus (HP:0004401)

Term ID:

4401

Name:

Meconium ileus

Synonym:

Distal intestinal obstruction syndrome; Meconium ileus in neonates; Meconium ileus on ultrasonography

Definition:

Obstruction of the intestine due to abnormally thick meconium.

Comments:

Reference:

HP:0004401

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004401	HP:0004401	Meconium ileus	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0004401	HP:0004401	Meconium ileus	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0004401	HP:0004401	Meconium ileus	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0004401	HP:0004401	Meconium ileus	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0004401	HP:0004401	Meconium ileus	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0004401	HP:0004401	Meconium ileus	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0004401	HP:0004401	Meconium ileus	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0004401	HP:0004401	Meconium ileus	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0004401	HP:0004401	Meconium ileus	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0004401	HP:0004401	Meconium ileus	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0004401	HP:0004401	Meconium ileus	0	GUCY2C CL E G H	2984	4688	OMIM:614665	Meconium ileus	.	12
HP:0004401	HP:0004401	Meconium ileus	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0004401	HP:0004401	Meconium ileus	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0004401	HP:0004401	Meconium ileus	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0004401	HP:0004401	Meconium ileus	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0004401	HP:0004401	Meconium ileus	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0004401	HP:0004401	Meconium ileus	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0004401	HP:0004401	Meconium ileus	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0004401	HP:0004401	Meconium ileus	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0004401	HP:0004401	Meconium ileus	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0004401	HP:0004401	Meconium ileus	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0004401	HP:0004401	Meconium ileus	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0004401	HP:0004401	Meconium ileus	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13

Genes (21) :CEACAM3 CEACAM6 CFTR CLCA4 DCTN4 EDNRA FCGR2A GCLC GSTM3 GUCY2C HFE HMOX1 KCNN4 MIF SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1

Diseases (3) :ORPHA:586 OMIM:219700 OMIM:614665

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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