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:
Abnormal cornea morphology (HP:0000481)

Parent Node:
Abnormal corneal stroma morphology (HP:0011492)

..Starting node
..Prominent corneal nerve fibers (HP:0010726)

Term ID:

10726

Name:

Prominent corneal nerve fibers

Synonym:

Prominent corneal nerve fibres; Visible corneal nerve fibers; Visible corneal nerve fibres

Definition:

Abnormal prominence of the corneal nerve fibers.

Comments:

Reference:

HP:0010726

Genes and Diseases:

Child Nodes:

Sister Nodes:

Corneal stromal edema (HP:0012040)

Opacification of the corneal stroma (HP:0007759)

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:0010726	HP:0010726	Prominent corneal nerve fibers	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10	43
HP:0010726	HP:0010726	Prominent corneal nerve fibers	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9	30

Genes (2) :LZTR1 SOS2

Diseases (2) :OMIM:616564 OMIM:616559

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