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 soft palate morphology (HP:0100736)

Parent Node:
Abnormal uvula morphology (HP:0000172)

..Starting node
..Long uvula (HP:0010810)

Term ID:

10810

Name:

Long uvula

Synonym:

Elongated uvula; Hyperplasia of uvula; Long palatine uvula

Definition:

Increased length of the uvula.

Comments:

Reference:

HP:0010810

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of uvular muscle (HP:0430017)

Aplasia/Hypoplasia of the uvula (HP:0010293)

Bifid uvula (HP:0000193)

Broad uvula (HP:0010809)

Narrow uvula (HP:0010811)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010810	HP:0010810	Long uvula	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional

Genes (1) :AEBP1

Diseases (1) :ORPHA:536532

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