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
..Loss of eyelashes (HP:0011457)

Term ID:

11457

Name:

Loss of eyelashes

Synonym:

Ciliary Madarosis; Eyelashes fell out; Loss of eyelashes; Milphosis; Missing eyelashes

Definition:

This term refers to the loss of eyelashes that were previously present.

Comments:

Reference:

HP:0011457

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)

Multiple rows of eyelashes (HP:0008496)

Prominent eyelashes (HP:0011231)

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:0011457	HP:0011457	Loss of eyelashes	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0011457	HP:0011457	Loss of eyelashes	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0011457	HP:0011457	Loss of eyelashes	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0011457	HP:0011457	Loss of eyelashes	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional	31
HP:0011457	HP:0011457	Loss of eyelashes	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41
HP:0011457	HP:0011457	Loss of eyelashes	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0011457	HP:0011457	Loss of eyelashes	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (6) :GATA1 LMNA RNU4ATAC UROD UROS ZMPSTE24

Diseases (5) :ORPHA:79277 ORPHA:740 ORPHA:2636 ORPHA:95159 OMIM:263700

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