Human Phenotype Ontology

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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 eyelid morphology (HP:0000492)

Grandparent Node:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormal eyelash morphology (HP:0000499)

..Starting node
..Prominent eyelashes (HP:0011231)

Term ID:

11231

Name:

Prominent eyelashes

Synonym:

Prominent eyelashes; Thick eyelashes

Definition:

Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.

Comments:

Reference:

HP:0011231

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)

Short eyelashes (HP:0010764)

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:0011231	HP:0011231	Prominent eyelashes	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	88
HP:0011231	HP:0011231	Prominent eyelashes	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	219
HP:0011231	HP:0011231	Prominent eyelashes	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	25
HP:0011231	HP:0011231	Prominent eyelashes	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011231	HP:0011231	Prominent eyelashes	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0011231	HP:0011231	Prominent eyelashes	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0011231	HP:0011231	Prominent eyelashes	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0011231	HP:0011231	Prominent eyelashes	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0011231	HP:0011231	Prominent eyelashes	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0011231	HP:0011231	Prominent eyelashes	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	617
HP:0011231	HP:0011231	Prominent eyelashes	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	87
HP:0011231	HP:0011231	Prominent eyelashes	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	1
HP:0011231	HP:0011231	Prominent eyelashes	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011231	HP:0011231	Prominent eyelashes	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	47
HP:0011231	HP:0011231	Prominent eyelashes	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	14
HP:0011231	HP:0011231	Prominent eyelashes	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent

Genes (15) :ARID1A ARID1B ARID2 DPF2 KDM6A KMT2D LMNB1 RNU4ATAC SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4

Diseases (5) :ORPHA:1465 OMIM:147920 OMIM:619179 ORPHA:353298 OMIM:616651

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

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