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:
Abnormality of mouth shape (HP:0011338)

Parent Node:
Pursed lips (HP:0000205)

..Starting node
..Whistling appearance (HP:0000346)

Term ID:

346

Name:

Whistling appearance

Synonym:

Whistling appearance; Whistling facial appearance

Definition:

An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.

Comments:

Reference:

HP:0000346

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000346	HP:0000346	Whistling appearance	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166

Genes (1) :MYH3

Diseases (1) :OMIM:193700

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