Human Phenotype Ontology 
Grandparent Node:
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Abnormal ocular adnexa morphology (HP:0030669)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
..Starting node
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Entropion (HP:0000621)help
Term ID: 621
Name: Entropion
Synonym: Eyelid folded in; Eyelid turned in; Inverted eyelid
Definition: An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
Comments:
Reference: HP:0000621
Genes and Diseases:
 
       Child Nodes:
........expandUpper eyelid entropion (HP:0025607) help
........expandInvolutional entropion (HP:0031736) help
........expandCicatricial entropion (HP:0031737) help
........expandMechanical entropion (HP:0031738) help

 Sister Nodes: 
..expandAbnormal eyelash morphology (HP:0000499) help
..expandAbnormal levator palpebrae superioris morphology (HP:3000072) help
..expandAbnormality of the palpebral fissures (HP:0008050) help
..expandAccessory eyelid (HP:0430008) help
..expandAnkyloblepharon (HP:0009755) help
..expandAplasia/Hypoplasia of the eyelid (HP:0011226) help
..expandBlepharitis (HP:0000498) help
..expandBlepharospasm (HP:0000643) help
..expandDermatochalasis (HP:0010750) help
..expandEctropion (HP:0000656) help
..expandEpiblepharon (HP:0011225) help
..expandEpicanthus (HP:0000286) help
..expandErythema of the eyelids (HP:0040323) help
..expandEuryblepharon (HP:0012905) help
..expandEyelid apraxia (HP:0000658) help
..expandEyelid retraction (HP:0500043) help
..expandHeliotrope rash of eyelid (HP:0030845) help
..expandHooded eyelid (HP:0030820) help
..expandHyperpigmentation of eyelids (HP:0007406) help
..expandLagophthalmos (HP:0030001) help
..expandLipomas of eyelids (HP:0040164) help
..expandMicroblepharia (HP:0430010) help
..expandNodular changes affecting the eyelids (HP:0010732) help
..expandPalpebral edema (HP:0100540) help
..expandPalpebral thickening (HP:0030939) help
..expandSymblepharon (HP:0430007) help
..expandTelecanthus (HP:0000506) 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:0000621HP:0000621Entropion0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 8HP:0040283 - Occasional10
HP:0000621HP:0000621Entropion0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000621HP:0000621Entropion0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000621HP:0000621Entropion0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0000621HP:0000621Entropion0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0000621HP:0000621Entropion0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0000621HP:0000621Entropion0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0000621HP:0000621Entropion0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0000621HP:0000621Entropion0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0000621HP:0000621Entropion0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0000621HP:0000621Entropion0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0000621HP:0000621Entropion0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0000621HP:0000621Entropion0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0000621HP:0000621Entropion0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0000621HP:0000621Entropion0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0000621HP:0000621Entropion0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0000621HP:0000621Entropion0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000621HP:0000621Entropion0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040281 - Very frequent138
HP:0000621HP:0000621Entropion0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0000621HP:0000621Entropion0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0000621HP:0000621Entropion0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0000621HP:0000621Entropion0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0000621HP:0000621Entropion0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0000621HP:0000621Entropion0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0000621HP:0000621Entropion0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0000621HP:0000621Entropion0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0000621HP:0031738Mechanical entropion1 CL E G H
HP:0000621HP:0031737Cicatricial entropion1 CL E G H
HP:0000621HP:0031736Involutional entropion1 CL E G H
HP:0000621HP:0025607Upper eyelid entropion1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13


Genes (20) :ALDH1A3 ATP6V1A ATP6V1E1 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 GMNN HLA-B IKZF1 LMNA POLH POLR3A PPP2R1A TP63 XPA XPC ZMPSTE24

Diseases (18) :OMIM:615113 OMIM:617403 OMIM:617402 ORPHA:910 OMIM:278740 OMIM:278730 OMIM:278800 OMIM:616835 ORPHA:36426 ORPHA:1662 OMIM:278750 OMIM:264090 ORPHA:3455 ORPHA:457284 ORPHA:1896 OMIM:278700 OMIM:278720 OMIM:275210
 

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