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:
Facial palsy (HP:0010628)

Parent Node:
Facial diplegia (HP:0001349)

..Starting node
..Congenital facial diplegia (HP:0007188)

Term ID:

7188

Name:

Congenital facial diplegia

Synonym:

Congenital bilateral facial palsy; Congenital bilateral facial weakness

Definition:

Facial diplegia (that is, bilateral facial palsy) with congenital onset.

Comments:

Reference:

HP:0007188

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:0007188	HP:0007188	Congenital facial diplegia	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis	3
HP:0007188	HP:0007188	Congenital facial diplegia	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis

Genes (2) :COL25A1 ZFHX4

Diseases (1) :ORPHA:91411

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