Human Phenotype Ontology

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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 upper lip morphology (HP:0000177)

Parent Node:
Abnormality of the philtrum (HP:0000288)

..Starting node
..Tented philtrum (HP:0011825)

Term ID:

11825

Name:

Tented philtrum

Synonym:

Philtrum, Tented

Definition:

Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.

Comments:

Reference:

HP:0011825

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad philtrum (HP:0000289)

Deep philtrum (HP:0002002)

Hypoplastic philtrum (HP:0005326)

Long philtrum (HP:0000343)

Malaligned philtral ridges (HP:0011827)

Midline sinus of philtrum (HP:0011828)

Narrow philtrum (HP:0011829)

Philtrum with midline raphe (HP:0011826)

Short philtrum (HP:0000322)

Smooth philtrum (HP:0000319)

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:0011825	HP:0011825	Tented philtrum	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0011825	HP:0011825	Tented philtrum	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0011825	HP:0011825	Tented philtrum	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237

Genes (3) :LMX1B MAB21L1 STXBP1

Diseases (2) :ORPHA:495818 OMIM:618479

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