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 vestibule of the inner ear (HP:0011376)

Parent Node:
Morphological abnormality of the semicircular canal (HP:0011380)

..Starting node
..Aplasia of the semicircular canal (HP:0011381)

Term ID:

11381

Name:

Aplasia of the semicircular canal

Synonym:

Absent semicircular canal

Definition:

Absence of the semicircular canal.

Comments:

Reference:

HP:0011381

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged semicircular canal (HP:0011383)

Hypoplasia of the semicircular canal (HP:0011382)

Morphological abnormality of the anterior semicircular canal (HP:0040108)

Morphological abnormality of the lateral semicircular canal (HP:0040106)

Morphological abnormality of the posterior semicircular canal (HP:0040107)

Morphological abnormality of the saccule (HP:0040110)

Morphological abnormality of the utricle (HP:0040109)

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:0011381	HP:0011381	Aplasia of the semicircular canal	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	317
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	196
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	43
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	102
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	291
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	212
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	3
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	39
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	1
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	315
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	30
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0011381	HP:0011381	Aplasia of the semicircular canal	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional

Genes (16) :CBL CHD7 KRAS LZTR1 MRAS NRAS PTPN11 RAF1 RASA2 RIT1 RRAS RRAS2 SOS1 SOS2 SOX10 SPRED2

Diseases (3) :ORPHA:648 OMIM:214800 OMIM:611584

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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