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:
Abnormal cochlea morphology (HP:0000375)

..Starting node
..Cochlear malformation (HP:0008554)

Term ID:

8554

Name:

Cochlear malformation

Synonym:

Definition:

The presence of a malformed cochlea.

Comments:

Reference:

HP:0008554

Genes and Diseases:

Child Nodes:

........

Incomplete partition of the cochlea (HP:0011373)

................... HP:0000376 Incomplete partition of the cochlea type II
................... HP:0011374 Incomplete partition of the cochlea type I

Sister Nodes:

Aplasia/Hypoplasia of the cochlea (HP:0011395)

Cochlear degeneration (HP:0005102)

Enlarged cochlear aqueduct (HP:0011388)

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:0008554	HP:0008554	Cochlear malformation	0	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6	.	18
HP:0008554	HP:0008554	Cochlear malformation	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0008554	HP:0008554	Cochlear malformation	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0008554	HP:0008554	Cochlear malformation	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.	33
HP:0008554	HP:0008554	Cochlear malformation	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0008554	HP:0008554	Cochlear malformation	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.	121
HP:0008554	HP:0008554	Cochlear malformation	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0008554	HP:0008554	Cochlear malformation	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0008554	HP:0008554	Cochlear malformation	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.	274
HP:0008554	HP:0008554	Cochlear malformation	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare	138
HP:0008554	HP:0011373	Incomplete partition of the cochlea	1	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6		18
HP:0008554	HP:0011373	Incomplete partition of the cochlea	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0008554	HP:0011373	Incomplete partition of the cochlea	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0008554	HP:0011373	Incomplete partition of the cochlea	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0008554	HP:0011373	Incomplete partition of the cochlea	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0008554	HP:0011374	Incomplete partition of the cochlea type I	2	CL E G H
HP:0008554	HP:0000376	Incomplete partition of the cochlea type II	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0008554	HP:0000376	Incomplete partition of the cochlea type II	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0008554	HP:0000376	Incomplete partition of the cochlea type II	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0008554	HP:0000376	Incomplete partition of the cochlea type II	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50

Genes (9) :COL4A6 EYA1 FOXI1 HAAO KCNJ10 ORC1 SIX1 SLC26A4 SRCAP

Diseases (7) :OMIM:300914 OMIM:602588 OMIM:113650 OMIM:274600 OMIM:617660 OMIM:224690 ORPHA:2044

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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