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 periorbital region (HP:0000606)

Parent Node:
Orbital cyst (HP:0001144)

..Starting node
..Periorbital dermoid cyst (HP:0030668)

Term ID:

30668

Name:

Periorbital dermoid cyst

Synonym:

Definition:

A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.

Comments:

Reference:

HP:0030668

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030668	HP:0030668	Periorbital dermoid cyst	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2	3

Genes (1) :PAX1

Diseases (1) :OMIM:615560

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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