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 antitragus morphology (HP:0009896)

..Starting node
..Prominent antitragus (HP:0008593)

Term ID:

8593

Name:

Prominent antitragus

Synonym:

Enlarged antitragus; Hyperplastic antitragus; Hypertrophic antitragus

Definition:

Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.

Comments:

Reference:

HP:0008593

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent antitragus (HP:0011249)

Bifid antitragus (HP:0011250)

Everted antitragus (HP:0011248)

Underdeveloped antitragus (HP:0011251)

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:0008593	HP:0008593	Prominent antitragus	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0008593	HP:0008593	Prominent antitragus	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0008593	HP:0008593	Prominent antitragus	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0008593	HP:0008593	Prominent antitragus	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0008593	HP:0008593	Prominent antitragus	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135

Genes (5) :B3GAT3 CHST3 KAT6A PIGK RAB3GAP2

Diseases (4) :OMIM:245600 OMIM:616268 OMIM:618879 OMIM:212720

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