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 cranial sutures (HP:0011329)

Grandparent Node:
Abnormality of the forehead (HP:0000290)

Parent Node:
Abnormality of the metopic suture (HP:0005556)

..Starting node
..Metopic depression (HP:0011223)

Term ID:

11223

Name:

Metopic depression

Synonym:

Depression of frontal cranial suture; Depression of metopic cranial suture; Frontal suture depression

Definition:

Linear vertical groove in the midline of the forehead, extending from hairline to glabella.

Comments:

Reference:

HP:0011223

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metopic suture patent to nasal root (HP:0005495)

Metopic synostosis (HP:0011330)

Prominent metopic ridge (HP:0005487)

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:0011223	HP:0011223	Metopic depression	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175

Genes (1) :FGFR2

Diseases (1) :ORPHA:313855

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