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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Ectropion (HP:0000656)help
Term ID: 656
Name: Ectropion
Synonym: Everted eyelid; Eyelid folded out; Eyelid turned out
Definition: An outward turning (eversion) or rotation of the eyelid margin.
Comments:
Reference: HP:0000656
Genes and Diseases:
 
       Child Nodes:
........expandEctropion of lower eyelids (HP:0007651) help
........expandEversion of lateral third of lower eyelids (HP:0007655) help
........expandCicatricial ectropion (HP:0025608) help
........expandParalytic ectropion (HP:0500069) 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
..expandEntropion (HP:0000621) 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:0000656HP:0000656Ectropion0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0000656HP:0000656Ectropion0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0000656HP:0000656Ectropion0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent130
HP:0000656HP:0000656Ectropion0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040281 - Very frequent130
HP:0000656HP:0000656Ectropion0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A.130
HP:0000656HP:0000656Ectropion0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B.130
HP:0000656HP:0000656Ectropion0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0000656HP:0000656Ectropion0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0000656HP:0000656Ectropion0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0000656HP:0000656Ectropion0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent75
HP:0000656HP:0000656Ectropion0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional75
HP:0000656HP:0000656Ectropion0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0000656HP:0000656Ectropion0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent63
HP:0000656HP:0000656Ectropion0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional63
HP:0000656HP:0000656Ectropion0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3HP:0040283 - Occasional63
HP:0000656HP:0000656Ectropion0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0000656HP:0000656Ectropion0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000656HP:0000656Ectropion0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0000656HP:0000656Ectropion0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilarisHP:0040283 - Occasional33
HP:0000656HP:0000656Ectropion0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000656HP:0000656Ectropion0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040283 - Occasional
HP:0000656HP:0000656Ectropion0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0000656HP:0000656Ectropion0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000656HP:0000656Ectropion0CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndrome1003
HP:0000656HP:0000656Ectropion0CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 11003
HP:0000656HP:0000656Ectropion0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent5
HP:0000656HP:0000656Ectropion0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0000656HP:0000656Ectropion0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040283 - Occasional10
HP:0000656HP:0000656Ectropion0CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndrome
HP:0000656HP:0000656Ectropion0CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2
HP:0000656HP:0000656Ectropion0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0000656HP:0000656Ectropion0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0000656HP:0000656Ectropion0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0000656HP:0000656Ectropion0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0000656HP:0000656Ectropion0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosis59
HP:0000656HP:0000656Ectropion0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000656HP:0000656Ectropion0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000656HP:0000656Ectropion0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0000656HP:0000656Ectropion0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0000656HP:0000656Ectropion0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000656HP:0000656Ectropion0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0000656HP:0000656Ectropion0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0000656HP:0000656Ectropion0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0000656HP:0000656Ectropion0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0000656HP:0000656Ectropion0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0000656HP:0000656Ectropion0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0000656HP:0000656Ectropion0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040282 - Frequent20
HP:0000656HP:0000656Ectropion0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0000656HP:0000656Ectropion0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040283 - Occasional92
HP:0000656HP:0000656Ectropion0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0000656HP:0000656Ectropion0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0000656HP:0000656Ectropion0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0000656HP:0000656Ectropion0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000656HP:0000656Ectropion0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000656HP:0000656Ectropion0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0000656HP:0000656Ectropion0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0000656HP:0000656Ectropion0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0000656HP:0000656Ectropion0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000656HP:0000656Ectropion0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional79
HP:0000656HP:0000656Ectropion0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0000656HP:0000656Ectropion0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040283 - Occasional124
HP:0000656HP:0000656Ectropion0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0000656HP:0000656Ectropion0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000656HP:0000656Ectropion0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000656HP:0000656Ectropion0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0000656HP:0000656Ectropion0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000656HP:0000656Ectropion0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0000656HP:0000656Ectropion0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0000656HP:0000656Ectropion0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000656HP:0000656Ectropion0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000656HP:0000656Ectropion0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000656HP:0000656Ectropion0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000656HP:0000656Ectropion0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent60
HP:0000656HP:0000656Ectropion0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6HP:0040283 - Occasional60
HP:0000656HP:0000656Ectropion0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0000656HP:0000656Ectropion0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0000656HP:0000656Ectropion0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent47
HP:0000656HP:0000656Ectropion0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0000656HP:0000656Ectropion0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000656HP:0000656Ectropion0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000656HP:0000656Ectropion0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000656HP:0000656Ectropion0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000656HP:0000656Ectropion0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0000656HP:0000656Ectropion0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0000656HP:0000656Ectropion0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000656HP:0000656Ectropion0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040282 - Frequent98
HP:0000656HP:0000656Ectropion0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent98
HP:0000656HP:0000656Ectropion0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1.98
HP:0000656HP:0000656Ectropion0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0000656HP:0000656Ectropion0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040283 - Occasional
HP:0000656HP:0000656Ectropion0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040281 - Very frequent7
HP:0000656HP:0000656Ectropion0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000656HP:0000656Ectropion0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0000656HP:0000656Ectropion0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0000656HP:0000656Ectropion0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0000656HP:0000656Ectropion0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0000656HP:0000656Ectropion0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0000656HP:0000656Ectropion0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0000656HP:0500069Paralytic ectropion1 CL E G H
HP:0000656HP:0025608Cicatricial ectropion1ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000656HP:0007651Ectropion of lower eyelids1CDH1 CL E G H9991748ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040281 - Very frequent1003
HP:0000656HP:0007651Ectropion of lower eyelids1CDH1 CL E G H9991748OMIM:119580Blepharocheilodontic syndrome 1.1003
HP:0000656HP:0007651Ectropion of lower eyelids1CTNND1 CL E G H15002515ORPHA:1997Blepharo-cheilo-odontic syndromeHP:0040281 - Very frequent
HP:0000656HP:0007651Ectropion of lower eyelids1CTNND1 CL E G H15002515OMIM:617681Blepharocheilodontic syndrome 2.
HP:0000656HP:0007651Ectropion of lower eyelids1DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0000656HP:0007651Ectropion of lower eyelids1DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent53
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040281 - Very frequent660
HP:0000656HP:0007655Eversion of lateral third of lower eyelids1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000656HP:0007651Ectropion of lower eyelids1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000656HP:0007651Ectropion of lower eyelids1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM


Genes (63) :ABCA1 ABCA12 ABHD5 ALOX12B ALOXE3 APC ASPRV1 CARD14 CARS1 CD28 CDC42 CDH1 CERS3 CTLA4 CTNND1 CYP4F22 DDB2 DHODH DLX4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FERMT1 FLI1 FOXC2 FOXL2 GATA1 GBA1 GRIA3 GTF2E2 GTF2H5 HNRNPK IPO8 ITGA6 ITGB4 KDM6A KMT2D KRT10 LIPN LRP4 MBTPS2 MEGF8 MPLKIP NIPAL4 PLEC PNPLA1 POLH POLR3A RIPK4 RNF113A RNF2 SDR9C7 SULT2B1 TARS1 TGM1 TNFRSF1B TWIST2 UROD UROS XPA XPC

Diseases (60) :ORPHA:31150 OMIM:205400 ORPHA:79394 ORPHA:457 OMIM:601277 OMIM:242500 ORPHA:313 OMIM:275630 ORPHA:98907 OMIM:242100 OMIM:606545 ORPHA:3258 OMIM:173200 ORPHA:33364 ORPHA:3162 ORPHA:487796 OMIM:616737 ORPHA:1997 OMIM:119580 OMIM:615023 OMIM:617681 ORPHA:910 OMIM:278740 OMIM:263750 ORPHA:246 OMIM:616788 OMIM:278730 OMIM:278800 ORPHA:2908 ORPHA:2308 ORPHA:33001 OMIM:153400 ORPHA:572333 ORPHA:79277 ORPHA:85212 ORPHA:364028 OMIM:616395 ORPHA:352665 ORPHA:453504 OMIM:619472 ORPHA:79403 OMIM:226730 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:609165 OMIM:308800 OMIM:614976 OMIM:612281 OMIM:278750 OMIM:264090 OMIM:263650 OMIM:619460 ORPHA:100976 OMIM:242300 ORPHA:1231 OMIM:209885 ORPHA:95159 OMIM:278700 OMIM:278720
 

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