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)

Grandparent Node:
Aplasia/Hypoplasia of the ear (HP:0008771)

Parent Node:
Aplasia/Hypoplasia of the external ear (HP:0008772)

..Starting node
..Anotia (HP:0009892)

Term ID:

9892

Name:

Anotia

Synonym:

Absent ear; Absent ears; Congenital absence of external ear

Definition:

Complete absence of any auricular structures.

Comments:

Reference:

HP:0009892

Genes and Diseases:

Child Nodes:

Sister Nodes:

Focal absence of the external ear (HP:0400003)

Microtia (HP:0008551)

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:0009892	HP:0009892	Anotia	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0009892	HP:0009892	Anotia	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0009892	HP:0009892	Anotia	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0009892	HP:0009892	Anotia	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0009892	HP:0009892	Anotia	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0009892	HP:0009892	Anotia	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0009892	HP:0009892	Anotia	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent	21
HP:0009892	HP:0009892	Anotia	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0009892	HP:0009892	Anotia	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0009892	HP:0009892	Anotia	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0009892	HP:0009892	Anotia	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0009892	HP:0009892	Anotia	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0009892	HP:0009892	Anotia	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2

Genes (13) :CDC45 CDC6 CDT1 FANCB FANCL GMNN HOXA2 ORC1 ORC4 ORC6 POLR1A POLR1D SF3B2

Diseases (7) :ORPHA:2554 ORPHA:3412 OMIM:614083 ORPHA:83463 OMIM:616462 OMIM:613717 OMIM:164210

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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