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:
Abnormality of the outer ear (HP:0000356)

Parent Node:
Abnormal pinna morphology (HP:0000377)

..Starting node
..Thickened ears (HP:0009894)

Term ID:

9894

Name:

Thickened ears

Synonym:

Thickened ears

Definition:

Increased thickness of the external ear.

Comments:

Reference:

HP:0009894

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal antihelix morphology (HP:0009738)

Abnormal antitragus morphology (HP:0009896)

Abnormal earlobe morphology (HP:0000363)

Abnormal helix morphology (HP:0011039)

Abnormal number of tubercles (HP:0040112)

Abnormal tragus morphology (HP:0009912)

Asymmetry of the ears (HP:0010722)

Auricular pit (HP:0030025)

Auricular tag (HP:0030021)

Calcification of the auricular cartilage (HP:0005103)

Chondritis of pinna (HP:0200047)

Crumpled ear (HP:0009901)

Cryptotia (HP:0011252)

Cupped ear (HP:0000378)

Cystic lesions of the pinnae (HP:0010723)

Hypoplasia of the ear cartilage (HP:0100720)

Long ear (HP:0400004)

Lop ear (HP:0000394)

Macrotia (HP:0000400)

Microtia (HP:0008551)

Mozart ear (HP:0030677)

Protruding ear (HP:0000411)

Quelprud nodule (HP:0030023)

Question mark ear (HP:0030022)

Round ear (HP:0100830)

Satyr ear (HP:0030676)

Short ear (HP:0400005)

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:0009894	HP:0009894	Thickened ears	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0009894	HP:0009894	Thickened ears	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0009894	HP:0009894	Thickened ears	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0009894	HP:0009894	Thickened ears	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0009894	HP:0009894	Thickened ears	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0009894	HP:0009894	Thickened ears	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0009894	HP:0009894	Thickened ears	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0009894	HP:0009894	Thickened ears	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0009894	HP:0009894	Thickened ears	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0009894	HP:0009894	Thickened ears	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0009894	HP:0009894	Thickened ears	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21

Genes (11) :ABCC8 AFF4 ALMS1 ATP6V1B2 KCNH1 KCNJ11 KCNN3 NARS2 PIGY PTCH1 TAF1

Diseases (7) :ORPHA:79134 ORPHA:444077 ORPHA:64 ORPHA:3473 OMIM:616809 ORPHA:77301 OMIM:300966

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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