Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 eyelash morphology (HP:0000499)

Parent Node:
Abnormality of lower eyelashes (HP:0040052)

Parent Node:
Long eyelashes (HP:0000527)

..Starting node
..Long lower eyelashes (HP:0040053)

Term ID:

40053

Name:

Long lower eyelashes

Synonym:

Ciliary trichomegaly of lower eyelashes; Increased length of lower eyelashes; Long lower eyelashes

Definition:

Comments:

Reference:

HP:0040053

Genes and Diseases:

Child Nodes:

Sister Nodes:

Long eyelashes in irregular rows (HP:0007740)

Long upper eyelashes (HP:0007840)

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:0040053	HP:0040053	Long lower eyelashes	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	39
HP:0040053	HP:0040053	Long lower eyelashes	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	34

Genes (2) :GJA5 GJA8

Diseases (1) :OMIM:612474

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