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:
Morphological abnormality of the inner ear (HP:0011390)

Parent Node:
Abnormality of the internal auditory canal (HP:0011384)

..Starting node
..Narrow internal auditory canal (HP:0011386)

Term ID:

11386

Name:

Narrow internal auditory canal

Synonym:

Definition:

Reduction in diameter of the internal auditory canal.

Comments:

Reference:

HP:0011386

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent internal auditory canal (HP:0011385)

Dilatated internal auditory canal (HP:0004458)

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:0011386	HP:0011386	Narrow internal auditory canal	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0011386	HP:0011386	Narrow internal auditory canal	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0011386	HP:0011386	Narrow internal auditory canal	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0011386	HP:0011386	Narrow internal auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0011386	HP:0011386	Narrow internal auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0011386	HP:0011386	Narrow internal auditory canal	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0011386	HP:0011386	Narrow internal auditory canal	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0011386	HP:0011386	Narrow internal auditory canal	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0011386	HP:0011386	Narrow internal auditory canal	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0011386	HP:0011386	Narrow internal auditory canal	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0011386	HP:0011386	Narrow internal auditory canal	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0011386	HP:0011386	Narrow internal auditory canal	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0011386	HP:0011386	Narrow internal auditory canal	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0011386	HP:0011386	Narrow internal auditory canal	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0011386	HP:0011386	Narrow internal auditory canal	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0011386	HP:0011386	Narrow internal auditory canal	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18

Genes (15) :AKT1 CHN1 ERF FGFR2 FGFR3 MAFB OTX2 POLR1B POLR1C POLR1D PRRX1 PTEN SALL4 TCOF1 TWIST1

Diseases (6) :ORPHA:744 ORPHA:233 ORPHA:207 ORPHA:794 ORPHA:990 ORPHA:861

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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