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 oral cavity morphology (HP:0000163)

Parent Node:
Abnormal oral frenulum morphology (HP:0000190)

..Starting node
..Accessory oral frenulum (HP:0000191)

Term ID:

191

Name:

Accessory oral frenulum

Synonym:

Accessory oral frenum; Extra oral frenulum; Extra oral frenum; Multiple oral frenula; Supernumerary oral frenulum; Supernumerary oral frenum

Definition:

Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.

Comments:

Reference:

HP:0000191

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankyloglossia (HP:0010296)

Short lingual frenulum (HP:0000200)

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:0000191	HP:0000191	Accessory oral frenulum	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000191	HP:0000191	Accessory oral frenulum	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0000191	HP:0000191	Accessory oral frenulum	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000191	HP:0000191	Accessory oral frenulum	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000191	HP:0000191	Accessory oral frenulum	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000191	HP:0000191	Accessory oral frenulum	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040282 - Frequent	2
HP:0000191	HP:0000191	Accessory oral frenulum	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0000191	HP:0000191	Accessory oral frenulum	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000191	HP:0000191	Accessory oral frenulum	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0000191	HP:0000191	Accessory oral frenulum	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000191	HP:0000191	Accessory oral frenulum	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0000191	HP:0000191	Accessory oral frenulum	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000191	HP:0000191	Accessory oral frenulum	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent	201
HP:0000191	HP:0000191	Accessory oral frenulum	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1		2
HP:0000191	HP:0000191	Accessory oral frenulum	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0000191	HP:0000191	Accessory oral frenulum	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000191	HP:0000191	Accessory oral frenulum	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31

Genes (16) :C2CD3 CD96 CHUK CPLANE1 DDX59 DYNC2LI1 EFTUD2 FLNA GLI3 IFT140 IFT57 OFD1 PRKACA PRKACB SCNM1 TCTN3

Diseases (17) :ORPHA:434179 ORPHA:1308 OMIM:211750 OMIM:619339 OMIM:277170 ORPHA:2919 OMIM:617088 ORPHA:79113 ORPHA:88630 ORPHA:672 OMIM:266920 OMIM:617927 ORPHA:2750 OMIM:619142 OMIM:619143 OMIM:620107 OMIM:258860

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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