Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Short lingual frenulum (HP:0000200)

Term ID:

200

Name:

Short lingual frenulum

Synonym:

Deficiency of lingual frenulum; Hypoplasia of lingual frenulum; Hypoplasia of lingual frenum; Hypoplasia of tongue frenulum; Hypoplasia of tongue frenum; Short lingual frenum; Short tongue frenulum; Short tongue frenum; Tight lingual frenulum

Definition:

The presence of an abnormally short lingual frenulum.

Comments:

Reference:

HP:0000200

Genes and Diseases:

Child Nodes:

Sister Nodes:

Accessory oral frenulum (HP:0000191)

Ankyloglossia (HP:0010296)

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:0000200	HP:0000200	Short lingual frenulum	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000200	HP:0000200	Short lingual frenulum	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000200	HP:0000200	Short lingual frenulum	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000200	HP:0000200	Short lingual frenulum	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000200	HP:0000200	Short lingual frenulum	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000200	HP:0000200	Short lingual frenulum	0	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome	HP:0040281 - Very frequent	198
HP:0000200	HP:0000200	Short lingual frenulum	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0000200	HP:0000200	Short lingual frenulum	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0000200	HP:0000200	Short lingual frenulum	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000200	HP:0000200	Short lingual frenulum	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000200	HP:0000200	Short lingual frenulum	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0000200	HP:0000200	Short lingual frenulum	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000200	HP:0000200	Short lingual frenulum	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (12) :ATP6V1B2 B3GLCT CDK13 DVL1 FREM1 KIAA0753 LMNA SMARCA2 TBC1D24 WDR35 WNT5A ZMPSTE24

Diseases (10) :ORPHA:79500 OMIM:261540 OMIM:617360 OMIM:180700 OMIM:608980 ORPHA:217266 OMIM:619479 ORPHA:740 OMIM:601358 OMIM:614091

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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