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 cleft (HP:0030690)

Term ID:

30690

Name:

Gingival cleft

Synonym:

Definition:

A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.

Comments:

Reference:

HP:0030690

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fusion of gums (HP:0012292)

Gingival bleeding (HP:0000225)

Gingival calcification (HP:0025141)

Gingival fibromatosis (HP:0000169)

Gingival hyperkeratosis (HP:0000222)

Gingival overgrowth (HP:0000212)

Gingival recession (HP:0030816)

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:0030690	HP:0030690	Gingival cleft	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0030690	HP:0030690	Gingival cleft	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0030690	HP:0030690	Gingival cleft	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504

Genes (3) :HYLS1 KIF7 SMAD4

Diseases (2) :ORPHA:2189 ORPHA:2588

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