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 eyelid morphology (HP:0000492)

Grandparent Node:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormal eyelash morphology (HP:0000499)

..Starting node
..Short eyelashes (HP:0010764)

Term ID:

10764

Name:

Short eyelashes

Synonym:

Decreased length of eyelashes; Short eyelashes

Definition:

Decreased length of the eyelashes (subjective).

Comments:

Reference:

HP:0010764

Genes and Diseases:

Child Nodes:

........

Short upper eyelashes (HP:0040054)

........

Short lower eyelashes (HP:0040055)

Sister Nodes:

Abnormality of lower eyelashes (HP:0040052)

Abnormality of upper eyelashes (HP:0040051)

Curly eyelashes (HP:0007665)

Ectopic cilia of eyelid (HP:0430006)

Long eyelashes (HP:0000527)

Loss of eyelashes (HP:0011457)

Multiple rows of eyelashes (HP:0008496)

Prominent eyelashes (HP:0011231)

Sparse or absent eyelashes (HP:0200102)

Trichiasis (HP:0001128)

White eyelashes (HP:0002227)

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:0010764	HP:0010764	Short eyelashes	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0010764	HP:0010764	Short eyelashes	0	LSS CL E G H	4047	6708	OMIM:618275	Hypotrichosis 14		2
HP:0010764	HP:0010764	Short eyelashes	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4	HP:0040283 - Occasional	71
HP:0010764	HP:0040055	Short lower eyelashes	1	CL E G H
HP:0010764	HP:0040054	Short upper eyelashes	1	CL E G H

Genes (3) :AXIN2 LSS WNT10A

Diseases (3) :OMIM:608615 OMIM:618275 OMIM:150400

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