Human Phenotype Ontology

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:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	ESRP1 CL E G H	54845	25966	OMIM:618013	DEAFNESS, AUTOSOMAL RECESSIVE 109; DFNB109
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0011380	HP:0011380	Morphological abnormality of the semicircular canal	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011380	HP:0040109	Morphological abnormality of the utricle	1	CL E G H
HP:0011380	HP:0040108	Morphological abnormality of the anterior semicircular canal	1	CL E G H
HP:0011380	HP:0040107	Morphological abnormality of the posterior semicircular canal	1	CL E G H
HP:0011380	HP:0040106	Morphological abnormality of the lateral semicircular canal	1	CL E G H
HP:0011380	HP:0011383	Enlarged semicircular canal	1	CL E G H
HP:0011380	HP:0040110	Morphological abnormality of the saccule	1	CL E G H
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	317
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011380	HP:0011382	Hypoplasia of the semicircular canal	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	196
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	43
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	102
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	291
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	212
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	3
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	39
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	1
HP:0011380	HP:0011382	Hypoplasia of the semicircular canal	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	315
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional	30
HP:0011380	HP:0011382	Hypoplasia of the semicircular canal	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0011380	HP:0011382	Hypoplasia of the semicircular canal	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61
HP:0011380	HP:0011381	Aplasia of the semicircular canal	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040283 - Occasional