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 supraorbital ridges (HP:0100538)

Parent Node:
Prominent supraorbital ridges (HP:0000336)

..Starting node
..Prominent supraorbital arches in adult (HP:0004676)

Term ID:

4676

Name:

Prominent supraorbital arches in adult

Synonym:

Definition:

Comments:

Reference:

HP:0004676

Genes and Diseases:

Child Nodes:

Sister Nodes:

Heavy supraorbital ridges (HP:0002054)

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:0004676	HP:0004676	Prominent supraorbital arches in adult	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58

Genes (1) :PTH1R

Diseases (1) :OMIM:156400

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