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 mandible morphology (HP:0000277)

Parent Node:
Abnormality of the alveolar ridges (HP:0006477)

..Starting node
..Fibrous syngnathia (HP:0009754)

Term ID:

9754

Name:

Fibrous syngnathia

Synonym:

Alveolar synechiae; Fusion of the alveolar ridges

Definition:

Complete or nearly complete soft tissue fusion of the alveolar ridges.

Comments:

Reference:

HP:0009754

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alveolar process hypoplasia (HP:0006329)

Alveolar ridge overgrowth (HP:0009085)

Atrophy of alveolar ridges (HP:0006308)

Broad alveolar ridges (HP:0000187)

Midline notch of upper alveolar ridge (HP:0009084)

Progressive alveolar ridge hypertropy (HP:0009092)

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:0009754	HP:0009754	Fibrous syngnathia	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0009754	HP:0009754	Fibrous syngnathia	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99

Genes (1) :IRF6

Diseases (2) :ORPHA:1300 OMIM:119500

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