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 uvula morphology (HP:0000172)

Parent Node:
Aplasia/Hypoplasia of the uvula (HP:0010293)

..Starting node
..Absent uvula (HP:0010292)

Term ID:

10292

Name:

Absent uvula

Synonym:

Absent palatine uvula; Agenesis of uvula; Congenital absence of uvula; Missing uvula; Uvula aplasia

Definition:

Lack of the uvula.

Comments:

Reference:

HP:0010292

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short uvula (HP:0010812)

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:0010292	HP:0010292	Absent uvula	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0010292	HP:0010292	Absent uvula	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0010292	HP:0010292	Absent uvula	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0010292	HP:0010292	Absent uvula	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120

Genes (3) :NXN PI4KA ROR2

Diseases (4) :OMIM:618529 OMIM:619708 OMIM:616531 OMIM:268310

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