Human Phenotype Ontology 
Grandparent Node:
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Abnormal eyelid morphology (HP:0000492)help
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormal eyelash morphology (HP:0000499)help
..Starting node
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Abnormality of lower eyelashes (HP:0040052)help
Term ID: 40052
Name: Abnormality of lower eyelashes
Synonym: Abnormality of lower eyelashes
Definition:
Comments:
Reference: HP:0040052
Genes and Diseases:
 
       Child Nodes:
........expandSparse lower eyelashes (HP:0007776) help
........expandLong lower eyelashes (HP:0040053) help
........expandShort lower eyelashes (HP:0040055) help

 Sister Nodes: 
..expandAbnormality of upper eyelashes (HP:0040051) help
..expandCurly eyelashes (HP:0007665) help
..expandEctopic cilia of eyelid (HP:0430006) help
..expandLong eyelashes (HP:0000527) help
..expandLoss of eyelashes (HP:0011457) help
..expandMultiple rows of eyelashes (HP:0008496) help
..expandProminent eyelashes (HP:0011231) help
..expandShort eyelashes (HP:0010764) help
..expandSparse or absent eyelashes (HP:0200102) help
..expandTrichiasis (HP:0001128) help
..expandWhite eyelashes (HP:0002227) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040052HP:0040052Abnormality of lower eyelashes0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0040052HP:0040052Abnormality of lower eyelashes0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0040052HP:0040052Abnormality of lower eyelashes0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0040052HP:0040052Abnormality of lower eyelashes0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0040052HP:0040052Abnormality of lower eyelashes0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0040052HP:0040052Abnormality of lower eyelashes0TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type III7
HP:0040052HP:0040055Short lower eyelashes1 CL E G H
HP:0040052HP:0040053Long lower eyelashes1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0040052HP:0040053Long lower eyelashes1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0040052HP:0007776Sparse lower eyelashes1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0040052HP:0007776Sparse lower eyelashes1SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0040052HP:0007776Sparse lower eyelashes1TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0040052HP:0007776Sparse lower eyelashes1TWIST2 CL E G H11758120670ORPHA:1807Focal facial dermal dysplasia type IIIHP:0040282 - Frequent7


Genes (5) :GJA5 GJA8 SF3B4 TCOF1 TWIST2

Diseases (5) :OMIM:612474 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.