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:
Dyspnea (HP:0002094)

Parent Node:
Respiratory distress (HP:0002098)

..Starting node
..Nasal flaring (HP:0030863)

Term ID:

30863

Name:

Nasal flaring

Synonym:

Definition:

Widening of the nostrils upon inhalation as a manifestation of respiratory distress.

Comments:

Reference:

HP:0030863

Genes and Diseases:

Child Nodes:

Sister Nodes:

Episodic respiratory distress (HP:0004885)

Intercostal retractions (HP:0030864)

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:0030863	HP:0030863	Nasal flaring	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent	147
HP:0030863	HP:0030863	Nasal flaring	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent	51
HP:0030863	HP:0030863	Nasal flaring	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent	33

Genes (3) :ABCA3 SFTPB SFTPC

Diseases (1) :ORPHA:70587

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