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 mucosa morphology (HP:0011830)

Parent Node:
Abnormality of the gingiva (HP:0000168)

..Starting node
..Gingival recession (HP:0030816)

Term ID:

30816

Name:

Gingival recession

Synonym:

Gum recession; Receding gums

Definition:

The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.

Comments:

Reference:

HP:0030816

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fusion of gums (HP:0012292)

Gingival bleeding (HP:0000225)

Gingival calcification (HP:0025141)

Gingival cleft (HP:0030690)

Gingival fibromatosis (HP:0000169)

Gingival hyperkeratosis (HP:0000222)

Gingival overgrowth (HP:0000212)

Gingivitis (HP:0000230)

Periodontitis (HP:0000704)

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:0030816	HP:0030816	Gingival recession	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0030816	HP:0030816	Gingival recession	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0030816	HP:0030816	Gingival recession	0	CTSC CL E G H	1075	2528	OMIM:170650	Periodontitis, aggressive, 1	.	50
HP:0030816	HP:0030816	Gingival recession	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.	747
HP:0030816	HP:0030816	Gingival recession	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0030816	HP:0030816	Gingival recession	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6

Genes (6) :C1R COL3A1 CTSC DSP FIG4 VAC14

Diseases (5) :OMIM:130080 OMIM:618343 OMIM:170650 OMIM:615821 ORPHA:3472

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