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 palate morphology (HP:0000174)

Parent Node:
Abnormal soft palate morphology (HP:0100736)

..Starting node
..Velopharyngeal insufficiency (HP:0000220)

Term ID:

220

Name:

Velopharyngeal insufficiency

Synonym:

Velopharyngeal dysfunction; Velopharyngeal incompetence

Definition:

Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.

Comments:

Reference:

HP:0000220

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal uvula morphology (HP:0000172)

Abnormality of musculature of soft palate (HP:0430014)

Absent soft palate (HP:0031046)

Cleft soft palate (HP:0000185)

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:0000220	HP:0000220	Velopharyngeal insufficiency	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	6
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	38
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1003
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	1
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent	12
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	99
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	12
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	4
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	337
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent	140
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000220	HP:0000220	Velopharyngeal insufficiency	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent

Genes (28) :ARHGAP29 BICRA BMP4 CDH1 DGCR2 DGCR6 DGCR8 DLG1 DLX4 ESS2 GRHL3 IRF6 MSX1 MYMX NECTIN1 NEK1 PDGFRA RAD21 RAI1 RLIM SF3B4 SIAH1 TBX1 THOC6 TP63 TUBB6 TWIST2 UBB

Diseases (17) :ORPHA:199306 OMIM:619325 OMIM:192430 ORPHA:99772 ORPHA:199302 OMIM:619941 ORPHA:2751 OMIM:614701 OMIM:182290 OMIM:300978 OMIM:154400 OMIM:619314 OMIM:613680 ORPHA:363444 OMIM:129400 OMIM:617732 OMIM:209885

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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