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
..Long ear (HP:0400004)

Term ID:

400004

Name:

Long ear

Synonym:

Long ear; Long ears

Definition:

Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.

Comments:

Reference:

HP:0400004

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)

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)

Thickened ears (HP:0009894)

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:0400004	HP:0400004	Long ear	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent	144
HP:0400004	HP:0400004	Long ear	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0400004	HP:0400004	Long ear	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0400004	HP:0400004	Long ear	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0400004	HP:0400004	Long ear	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0400004	HP:0400004	Long ear	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13

Genes (6) :DPYD EED EIF5A KDM3B STT3A WNT7A

Diseases (6) :ORPHA:293948 OMIM:617561 OMIM:619376 OMIM:618846 OMIM:619714 OMIM:276820

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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