Human Phenotype Ontology

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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 tragus morphology (HP:0009912)

..Starting node
..Aplasia/Hypoplasia of the tragus (HP:0009913)

Term ID:

9913

Name:

Aplasia/Hypoplasia of the tragus

Synonym:

Absent/small tragus; Absent/underdeveloped tragus

Definition:

Aplasia or developmental hypoplasia of the tragus.

Comments:

Reference:

HP:0009913

Genes and Diseases:

Child Nodes:

........

Absent tragus (HP:0011268)

........

Underdeveloped tragus (HP:0011272)

Sister Nodes:

Bifid tragus (HP:0011269)

Duplicated tragus (HP:0011270)

Prominent tragus (HP:0011271)

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:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009913	HP:0009913	Aplasia/Hypoplasia of the tragus	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0009913	HP:0011268	Absent tragus	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0009913	HP:0011272	Underdeveloped tragus	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0009913	HP:0011272	Underdeveloped tragus	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9	.	173
HP:0009913	HP:0011272	Underdeveloped tragus	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009913	HP:0011272	Underdeveloped tragus	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040281 - Very frequent	11
HP:0009913	HP:0011272	Underdeveloped tragus	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0009913	HP:0011272	Underdeveloped tragus	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0009913	HP:0011272	Underdeveloped tragus	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009913	HP:0011268	Absent tragus	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174

Genes (7) :EFTUD2 GLI2 KAT6A KCTD1 NUP188 SF3B2 SMCHD1

Diseases (8) :ORPHA:79113 OMIM:610829 OMIM:616268 ORPHA:2036 OMIM:181270 OMIM:618804 OMIM:164210 OMIM:603457

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

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