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:
Sparse hair (HP:0008070)

Grandparent Node:
Sparse or absent eyelashes (HP:0200102)

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

Parent Node:
Sparse eyelashes (HP:0000653)

..Starting node
..Sparse lower eyelashes (HP:0007776)

Term ID:

7776

Name:

Sparse lower eyelashes

Synonym:

Hypotrichosis of lower eyelashes; Partial absence of lower eyelashes; Scanty lower eyelashes; Sparse lower eyelashes; Thin lower eyelashes

Definition:

Comments:

Reference:

HP:0007776

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sparse upper eyelashes (HP:0040050)

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:0007776	HP:0007776	Sparse lower eyelashes	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0007776	HP:0007776	Sparse lower eyelashes	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0007776	HP:0007776	Sparse lower eyelashes	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0007776	HP:0007776	Sparse lower eyelashes	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent	7

Genes (3) :SF3B4 TCOF1 TWIST2

Diseases (4) :OMIM:154400 ORPHA:245 OMIM:154500 ORPHA:1807

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