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:
Abnormal cochlea morphology (HP:0000375)

Parent Node:
Cochlear malformation (HP:0008554)

..Starting node
..Incomplete partition of the cochlea (HP:0011373)

Term ID:

11373

Name:

Incomplete partition of the cochlea

Synonym:

Definition:

Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.

Comments:

Reference:

HP:0011373

Genes and Diseases:

Child Nodes:

........

Incomplete partition of the cochlea type II (HP:0000376)

........

Incomplete partition of the cochlea type I (HP:0011374)

Sister Nodes:

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:0011373	HP:0011373	Incomplete partition of the cochlea	0	COL4A6 CL E G H	1288	2208	OMIM:300914	Deafness, X-linked 6		18
HP:0011373	HP:0011373	Incomplete partition of the cochlea	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011373	HP:0011373	Incomplete partition of the cochlea	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0011373	HP:0011373	Incomplete partition of the cochlea	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0011373	HP:0011373	Incomplete partition of the cochlea	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011373	HP:0011374	Incomplete partition of the cochlea type I	1	CL E G H
HP:0011373	HP:0000376	Incomplete partition of the cochlea type II	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0011373	HP:0000376	Incomplete partition of the cochlea type II	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0011373	HP:0000376	Incomplete partition of the cochlea type II	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0011373	HP:0000376	Incomplete partition of the cochlea type II	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50

Genes (5) :COL4A6 EYA1 HAAO ORC1 SIX1

Diseases (4) :OMIM:300914 OMIM:113650 OMIM:617660 OMIM:224690

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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