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:
Abnormality of the middle ear ossicles (HP:0004452)

Parent Node:
Abnormality of the stapes (HP:0008628)

..Starting node
..Stapes ankylosis (HP:0000381)

Term ID:

381

Name:

Stapes ankylosis

Synonym:

Stapes fixation

Definition:

Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).

Comments:

Reference:

HP:0000381

Genes and Diseases:

Child Nodes:

........

Congenital stapes ankylosis (HP:0007943)

Sister Nodes:

Absent stapes (HP:0011456)

Absent stapes head (HP:0200111)

Otosclerosis (HP:0000362)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000381	HP:0000381	Stapes ankylosis	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0000381	HP:0000381	Stapes ankylosis	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0000381	HP:0000381	Stapes ankylosis	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.		199
HP:0000381	HP:0000381	Stapes ankylosis	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.		56
HP:0000381	HP:0000381	Stapes ankylosis	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0000381	HP:0000381	Stapes ankylosis	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000381	HP:0000381	Stapes ankylosis	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent	HP:0003577 - Congenital onset	22
HP:0000381	HP:0000381	Stapes ankylosis	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0000381	HP:0000381	Stapes ankylosis	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.		40
HP:0000381	HP:0000381	Stapes ankylosis	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000381	HP:0000381	Stapes ankylosis	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000381	HP:0007943	Congenital stapes ankylosis	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent		22

Genes (8) :ABCC6 ENPP1 GJB2 GJB6 IL11RA NOG POU3F4 RAD21

Diseases (8) :ORPHA:51608 OMIM:304400 OMIM:614188 OMIM:186500 OMIM:184460 OMIM:185800 ORPHA:1435 OMIM:614701

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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