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:
Recurrent bacterial infections (HP:0002718)

Parent Node:
Recurrent gram-negative bacterial infections (HP:0005420)

..Starting node
..Recurrent Haemophilus influenzae infections (HP:0005376)

Term ID:

5376

Name:

Recurrent Haemophilus influenzae infections

Synonym:

Recurrent H. influenzae infections

Definition:

Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.

Comments:

Reference:

HP:0005376

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent Burkholderia cepacia infections (HP:0002842)

Recurrent E. coli infections (HP:0002740)

Recurrent Klebsiella infections (HP:0002742)

Recurrent Neisserial infections (HP:0005430)

Recurrent Serratia marcescens infections (HP:0002741)

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:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	1371
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	67
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	61
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	57
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0005376	HP:0005376	Recurrent Haemophilus influenzae infections	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13

Genes (25) :CEACAM3 CEACAM6 CFI CFTR CLCA4 DCTN4 EDNRA GCLC GSTM3 HFE HMOX1 IL2RG KCNN4 MIF RPGR SCNN1A SCNN1B SCNN1G SERPINA1 SLC11A1 SLC26A9 SLC6A14 SLC9A3 STX1A TGFB1

Diseases (5) :ORPHA:586 OMIM:610984 ORPHA:60033 ORPHA:276 OMIM:300455

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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