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
..Broad uvula (HP:0010809)

Term ID:

10809

Name:

Broad uvula

Synonym:

Wide uvula

Definition:

Increased width of the uvula (subjective finding).

Comments:

Reference:

HP:0010809

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of uvular muscle (HP:0430017)

Aplasia/Hypoplasia of the uvula (HP:0010293)

Bifid uvula (HP:0000193)

Long uvula (HP:0010810)

Narrow uvula (HP:0010811)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010809	HP:0010809	Broad uvula	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010809	HP:0010809	Broad uvula	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4	162

Genes (2) :IPO8 TGFB2

Diseases (2) :OMIM:619472 OMIM:614816

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