Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Underdeveloped antitragus (HP:0011251)

Term ID:

11251

Name:

Underdeveloped antitragus

Synonym:

Hypoplastic antitragus; Hypotrophic antitragus; Small antitragus

Definition:

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

Comments:

Reference:

HP:0011251

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent antitragus (HP:0011249)

Bifid antitragus (HP:0011250)

Everted antitragus (HP:0011248)

Prominent antitragus (HP:0008593)

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:0011251	HP:0011251	Underdeveloped antitragus	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0011251	HP:0011251	Underdeveloped antitragus	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11

Genes (1) :KCTD1

Diseases (2) :ORPHA:2036 OMIM:181270

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