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:
Abnormality of the middle ear (HP:0000370)

Parent Node:
Morphological abnormality of the middle ear (HP:0008609)

..Starting node
..Abnormality of the middle ear ossicles (HP:0004452)

Term ID:

4452

Name:

Abnormality of the middle ear ossicles

Synonym:

Malformed ossicles; Ossicular malformation

Definition:

An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).

Comments:

Reference:

HP:0004452

Genes and Diseases:

Child Nodes:

........

Fusion of middle ear ossicles (HP:0005473)

........

Abnormality of the stapes (HP:0008628)

................... HP:0000362 Otosclerosis
................... HP:0000381 Stapes ankylosis
................... HP:0011456 Absent stapes
................... HP:0200111 Absent stapes head

........

Aplasia of the middle ear ossicles (HP:0009910)

........

Abnormality of the incus (HP:0011453)

........

Abnormality of the malleus (HP:0011454)

................... HP:0011455 Absent malleus

Sister Nodes:

Aplasia/Hypoplasia of the middle ear (HP:0008773)

Cholesteatoma (HP:0009797)

Persistent stapedial artery (HP:0011475)

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:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		135
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		50
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent		10
HP:0004452	HP:0004452	Abnormality of the middle ear ossicles	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0004452	HP:0011453	Abnormality of the incus	1	CL E G H
HP:0004452	HP:0009910	Aplasia of the middle ear ossicles	1	CL E G H
HP:0004452	HP:0008628	Abnormality of the stapes	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0004452	HP:0008628	Abnormality of the stapes	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0004452	HP:0008628	Abnormality of the stapes	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0004452	HP:0008628	Abnormality of the stapes	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0004452	HP:0008628	Abnormality of the stapes	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0004452	HP:0008628	Abnormality of the stapes	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0004452	HP:0008628	Abnormality of the stapes	1	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4			64
HP:0004452	HP:0008628	Abnormality of the stapes	1	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2			199
HP:0004452	HP:0008628	Abnormality of the stapes	1	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2			56
HP:0004452	HP:0008628	Abnormality of the stapes	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0004452	HP:0008628	Abnormality of the stapes	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0004452	HP:0008628	Abnormality of the stapes	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0004452	HP:0011454	Abnormality of the malleus	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0004452	HP:0005473	Fusion of middle ear ossicles	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0004452	HP:0008628	Abnormality of the stapes	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0004452	HP:0008628	Abnormality of the stapes	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes			22
HP:0004452	HP:0008628	Abnormality of the stapes	1	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0004452	HP:0005473	Fusion of middle ear ossicles	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0004452	HP:0008628	Abnormality of the stapes	1	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2			40
HP:0004452	HP:0008628	Abnormality of the stapes	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0004452	HP:0008628	Abnormality of the stapes	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0004452	HP:0008628	Abnormality of the stapes	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0004452	HP:0008628	Abnormality of the stapes	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0004452	HP:0005473	Fusion of middle ear ossicles	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0004452	HP:0200111	Absent stapes head	2	CL E G H
HP:0004452	HP:0011456	Absent stapes	2	CL E G H
HP:0004452	HP:0000381	Stapes ankylosis	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0004452	HP:0000362	Otosclerosis	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0004452	HP:0000362	Otosclerosis	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0004452	HP:0000362	Otosclerosis	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.		373
HP:0004452	HP:0000362	Otosclerosis	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.		243
HP:0004452	HP:0000381	Stapes ankylosis	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0004452	HP:0000362	Otosclerosis	2	GDF6 CL E G H	392255	4221	OMIM:617898	Multiple synostoses syndrome 4	.		64
HP:0004452	HP:0000381	Stapes ankylosis	2	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2	.		199
HP:0004452	HP:0000381	Stapes ankylosis	2	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2	.		56
HP:0004452	HP:0000362	Otosclerosis	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0004452	HP:0000362	Otosclerosis	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0004452	HP:0000381	Stapes ankylosis	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0004452	HP:0011455	Absent malleus	2	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies			8
HP:0004452	HP:0000381	Stapes ankylosis	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0004452	HP:0000381	Stapes ankylosis	2	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:0004452	HP:0000381	Stapes ankylosis	2	NOG CL E G H	9241	7866	OMIM:185800	Symphalangism, proximal, 1A			22
HP:0004452	HP:0000381	Stapes ankylosis	2	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2	.		40
HP:0004452	HP:0000381	Stapes ankylosis	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0004452	HP:0000362	Otosclerosis	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional		4
HP:0004452	HP:0000381	Stapes ankylosis	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0004452	HP:0007943	Congenital stapes ankylosis	3	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent		22

Genes (22) :ABCC6 BPTF COL1A1 COL1A2 ENPP1 EYA1 GDF6 GJB2 GJB6 IDS IL11RA MAP3K7 NOG NOTCH3 POLR1D POU3F4 PSMD12 RAD21 SETBP1 SIX1 SIX5 TFAP2A

Diseases (21) :ORPHA:51608 ORPHA:529962 OMIM:166200 OMIM:166220 ORPHA:107 OMIM:617898 OMIM:304400 ORPHA:217093 ORPHA:217085 OMIM:614188 OMIM:157800 OMIM:186500 OMIM:184460 OMIM:185800 OMIM:130720 ORPHA:2789 OMIM:613717 ORPHA:1435 OMIM:614701 ORPHA:798 OMIM:113620

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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