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
..Trichiasis (HP:0001128)

Term ID:

1128

Name:

Trichiasis

Synonym:

Ingrown eyelashes; Introversion of eyelashes; Trichiasis of eyelid eyelashes

Definition:

Inversion and rubbing of the eyelashes against the globe of the eye.

Comments:

Reference:

HP:0001128

Genes and Diseases:

Child Nodes:

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)

Short eyelashes (HP:0010764)

Sparse or absent eyelashes (HP:0200102)

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:0001128	HP:0001128	Trichiasis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001128	HP:0001128	Trichiasis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001128	HP:0001128	Trichiasis	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.	199

Genes (3) :CREBBP EP300 GJB2

Diseases (3) :ORPHA:353277 ORPHA:353284 OMIM:148210

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