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 facial shape (HP:0001999)

Parent Node:
Small face (HP:0000274)

..Starting node
..Short face (HP:0011219)

Term ID:

11219

Name:

Short face

Synonym:

Decreased height of face; Decreased length of face; Decreased vertical dimension of face; Short face; Short facies; Vertical deficiency of face; Vertical Facial Deficiency; Vertical facial insufficiency; Vertical hypoplasia of face; Vertical insufficiency of face; Vertical shortening of face

Definition:

Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).

Comments:

Reference:

HP:0011219

Genes and Diseases:

Child Nodes:

Sister Nodes:

Narrow face (HP:0000275)

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:0011219	HP:0011219	Short face	0	AXIN2 CL E G H	8313	904	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	435
HP:0011219	HP:0011219	Short face	0	EDA CL E G H	1896	3157	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	115
HP:0011219	HP:0011219	Short face	0	EDARADD CL E G H	128178	14341	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	56
HP:0011219	HP:0011219	Short face	0	FGFR1 CL E G H	2260	3688	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	172
HP:0011219	HP:0011219	Short face	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional	12
HP:0011219	HP:0011219	Short face	0	IRF6 CL E G H	3664	6121	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	99
HP:0011219	HP:0011219	Short face	0	LRP6 CL E G H	4040	6698	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	26
HP:0011219	HP:0011219	Short face	0	MSX1 CL E G H	4487	7391	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	12
HP:0011219	HP:0011219	Short face	0	PAX9 CL E G H	5083	8623	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	58
HP:0011219	HP:0011219	Short face	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0011219	HP:0011219	Short face	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0011219	HP:0011219	Short face	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0011219	HP:0011219	Short face	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent	90
HP:0011219	HP:0011219	Short face	0	SUMO1 CL E G H	7341	12502	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	8
HP:0011219	HP:0011219	Short face	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0011219	HP:0011219	Short face	0	TGFA CL E G H	7039	11765	ORPHA:99798	Oligodontia	HP:0040283 - Occasional
HP:0011219	HP:0011219	Short face	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0011219	HP:0011219	Short face	0	WNT10A CL E G H	80326	13829	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	71
HP:0011219	HP:0011219	Short face	0	WNT10B CL E G H	7480	12775	ORPHA:99798	Oligodontia	HP:0040283 - Occasional	4

Genes (19) :AXIN2 EDA EDARADD FGFR1 GRHL3 IRF6 LRP6 MSX1 PAX9 POLR1B POLR1C POLR1D RUNX2 SUMO1 TCOF1 TGFA UBB WNT10A WNT10B

Diseases (4) :ORPHA:99798 ORPHA:99772 ORPHA:861 ORPHA:1452

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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