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:
Feeding difficulties (HP:0011968)

Parent Node:
Feeding difficulties in infancy (HP:0008872)

..Starting node
..Nasal regurgitation (HP:0011469)

Term ID:

11469

Name:

Nasal regurgitation

Synonym:

Definition:

Regurgitation of milk through the nose.

Comments:

Reference:

HP:0011469

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gastrojejunal tube feeding in infancy (HP:0030884)

Gastrostomy tube feeding in infancy (HP:0011471)

Nasogastric tube feeding in infancy (HP:0011470)

Poor suck (HP:0002033)

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:0011469	HP:0011469	Nasal regurgitation	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0011469	HP:0011469	Nasal regurgitation	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	65
HP:0011469	HP:0011469	Nasal regurgitation	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0011469	HP:0011469	Nasal regurgitation	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent	12
HP:0011469	HP:0011469	Nasal regurgitation	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0011469	HP:0011469	Nasal regurgitation	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0011469	HP:0011469	Nasal regurgitation	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	28
HP:0011469	HP:0011469	Nasal regurgitation	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	9
HP:0011469	HP:0011469	Nasal regurgitation	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2
HP:0011469	HP:0011469	Nasal regurgitation	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	4
HP:0011469	HP:0011469	Nasal regurgitation	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0011469	HP:0011469	Nasal regurgitation	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0011469	HP:0011469	Nasal regurgitation	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0011469	HP:0011469	Nasal regurgitation	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	2

Genes (14) :AGRN CHAT COL13A1 GRHL3 MYO9A SLC18A3 SLC25A1 SLC5A7 SNAP25 SYT2 TOP3A TUBB6 UBB VAMP1

Diseases (4) :ORPHA:98914 ORPHA:99772 OMIM:618098 OMIM:617732

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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