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 pinna morphology (HP:0000377)

Parent Node:
Abnormal tragus morphology (HP:0009912)

..Starting node
..Prominent tragus (HP:0011271)

Term ID:

11271

Name:

Prominent tragus

Synonym:

Enlarged tragus; Hyperplastic tragus; Hypertrophic tragus; Large tragus; Tragus, prominent

Definition:

Increase posterolateral protrusion of the tragus.

Comments:

Reference:

HP:0011271

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the tragus (HP:0009913)

Bifid tragus (HP:0011269)

Duplicated tragus (HP:0011270)

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:0011271	HP:0011271	Prominent tragus	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37

Genes (1) :PIGN

Diseases (1) :ORPHA:280633

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