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 mucosa morphology (HP:0011830)

..Starting node
..Oral synechia (HP:0010285)

Term ID:

10285

Name:

Oral synechia

Synonym:

Oral fibrous bands; Synechiae of the mouth

Definition:

Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.

Comments:

Reference:

HP:0010285

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pigmentation of the oral mucosa (HP:0100669)

Abnormality of the gingiva (HP:0000168)

Enanthema (HP:0030249)

Erosion of oral mucosa (HP:0031446)

Oral cavity telangiectasia (HP:0000228)

Oral erythroplakia (HP:0030934)

Oral lichenoid lesion (HP:0031453)

Oral mucosa nodule (HP:0031445)

Oral mucosal blisters (HP:0200097)

Oral ulcer (HP:0000155)

Stomatitis (HP:0010280)

White lesion of the oral mucosa (HP:0025125)

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:0010285	HP:0010285	Oral synechia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0010285	HP:0010285	Oral synechia	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0010285	HP:0010285	Oral synechia	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6

Genes (3) :RIPK4 TCTN3 TGDS

Diseases (3) :OMIM:263650 ORPHA:2753 ORPHA:1388

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.