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
..Short uvula (HP:0010812)

Term ID:

10812

Name:

Short uvula

Synonym:

Blunt uvula; Hypoplastic uvula; Short palatine uvula

Definition:

Decreased length of the uvula.

Comments:

Reference:

HP:0010812

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent uvula (HP:0010292)

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:0010812	HP:0010812	Short uvula	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010812	HP:0010812	Short uvula	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010812	HP:0010812	Short uvula	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136

Genes (3) :PRR12 SPTBN1 WDR35

Diseases (3) :OMIM:619539 OMIM:619475 OMIM:614091

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