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:
Abnormality of the forehead (HP:0000290)

Parent Node:
Abnormality of the glabella (HP:0002056)

..Starting node
..Depressed glabella (HP:0011222)

Term ID:

11222

Name:

Depressed glabella

Synonym:

Concave glabella; Deficiency of glabella; Deficient area between the eyebrows; Flat area between the eyebrows; Flat glabella; Hypoplasia of glabella

Definition:

Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.

Comments:

Reference:

HP:0011222

Genes and Diseases:

Child Nodes:

Sister Nodes:

Prominent glabella (HP:0002057)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011222	HP:0011222	Depressed glabella	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	1361

Genes (1) :FBN1

Diseases (1) :OMIM:608328

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