Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
Parent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
..Starting node
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Blepharitis (HP:0000498)help
Term ID: 498
Name: Blepharitis
Synonym: Cellulitis of eyelids; Inflammation of eyelids
Definition: Inflammation of the eyelids.
Comments:
Reference: HP:0000498
Genes and Diseases:
 
       Child Nodes:
........expandAnterior blepharitis (HP:0025609) help
........expandPosterior blepharitis (HP:0025610) help
................... HP:0500046 Seborrhoeic blepharitis

 Sister Nodes: 
..expandConjunctivitis (HP:0000509) help
..expandEpiscleritis (HP:0100534) help
..expandKeratitis (HP:0000491) help
..expandScleritis (HP:0100532) help
..expandUveitis (HP:0000554) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000498HP:0000498Blepharitis0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1329195603639
HP:0000498HP:0000498Blepharitis0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1263195603639
HP:0000498HP:0000498Blepharitis0APOE CL E G H348158029ORPHA180613107741
HP:0000498HP:0000498Blepharitis0APOE CL E G H348158029ORPHA178613107741
HP:0000498HP:0000498Blepharitis0COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000498HP:0000498Blepharitis0COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000498HP:0000498Blepharitis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000498HP:0000498Blepharitis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000498HP:0000498Blepharitis0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000498HP:0000498Blepharitis0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000498HP:0000498Blepharitis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000498HP:0000498Blepharitis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000498HP:0000498Blepharitis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000498HP:0000498Blepharitis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000498HP:0000498Blepharitis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000498HP:0000498Blepharitis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000498HP:0000498Blepharitis0MMP1 CL E G H431279408ORPHA1657155120353
HP:0000498HP:0000498Blepharitis0MMP1 CL E G H431279408ORPHA1637155120353
HP:0000498HP:0000498Blepharitis0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17410545607545
HP:0000498HP:0000498Blepharitis0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17010545607545
HP:0000498HP:0000498Blepharitis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000498HP:0000498Blepharitis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000498HP:0000498Blepharitis0PKP1 CL E G H5317158668ORPHA12329023601975
HP:0000498HP:0000498Blepharitis0PKP1 CL E G H5317158668ORPHA12299023601975
HP:0000498HP:0000498Blepharitis0PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1699060602142
HP:0000498HP:0000498Blepharitis0PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1669060602142
HP:0000498HP:0000498Blepharitis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12549811606462
HP:0000498HP:0000498Blepharitis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12399811606462
HP:0000498HP:0000498Blepharitis0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA149225566615743
HP:0000498HP:0000498Blepharitis0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA141825566615743
HP:0000498HP:0000498Blepharitis0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000498HP:0000498Blepharitis0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000498HP:0000498Blepharitis0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA169011111300040
HP:0000498HP:0000498Blepharitis0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA163511111300040
HP:0000498HP:0000498Blepharitis0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13222468606062
HP:0000498HP:0000498Blepharitis0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13112468606062
HP:0000498HP:0000498Blepharitis0ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116211344606797
HP:0000498HP:0000498Blepharitis0ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116011344606797
HP:0000498HP:0000498Blepharitis0TP63 CL E G H86261896Dominant cleft palateORPHA144415979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H86261896Dominant cleft palateORPHA137615979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000498HP:0000498Blepharitis0TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11591343607043
HP:0000498HP:0000498Blepharitis0TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11331343607043
HP:0000498HP:0000498Blepharitis0USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000498HP:0000498Blepharitis0USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000498HP:0025609Anterior blepharitis1ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1263195603639
HP:0000498HP:0025610Posterior blepharitis1ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1329195603639
HP:0000498HP:0025610Posterior blepharitis1ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1263195603639
HP:0000498HP:0025609Anterior blepharitis1ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1329195603639
HP:0000498HP:0025609Anterior blepharitis1APOE CL E G H348158029ORPHA178613107741
HP:0000498HP:0025610Posterior blepharitis1APOE CL E G H348158029ORPHA180613107741
HP:0000498HP:0025610Posterior blepharitis1APOE CL E G H348158029ORPHA178613107741
HP:0000498HP:0025609Anterior blepharitis1APOE CL E G H348158029ORPHA180613107741
HP:0000498HP:0025609Anterior blepharitis1COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000498HP:0025610Posterior blepharitis1COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000498HP:0025610Posterior blepharitis1COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000498HP:0025609Anterior blepharitis1COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000498HP:0025609Anterior blepharitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000498HP:0025610Posterior blepharitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000498HP:0025610Posterior blepharitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000498HP:0025609Anterior blepharitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000498HP:0025609Anterior blepharitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000498HP:0025610Posterior blepharitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000498HP:0025610Posterior blepharitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000498HP:0025609Anterior blepharitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000498HP:0025609Anterior blepharitis1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000498HP:0025610Posterior blepharitis1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000498HP:0025610Posterior blepharitis1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000498HP:0025609Anterior blepharitis1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000498HP:0025609Anterior blepharitis1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000498HP:0025610Posterior blepharitis1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000498HP:0025610Posterior blepharitis1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000498HP:0025609Anterior blepharitis1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000498HP:0025609Anterior blepharitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000498HP:0025610Posterior blepharitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000498HP:0025610Posterior blepharitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000498HP:0025609Anterior blepharitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000498HP:0025609Anterior blepharitis1MMP1 CL E G H431279408ORPHA1637155120353
HP:0000498HP:0025610Posterior blepharitis1MMP1 CL E G H431279408ORPHA1657155120353
HP:0000498HP:0025610Posterior blepharitis1MMP1 CL E G H431279408ORPHA1637155120353
HP:0000498HP:0025609Anterior blepharitis1MMP1 CL E G H431279408ORPHA1657155120353
HP:0000498HP:0025609Anterior blepharitis1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17010545607545
HP:0000498HP:0025610Posterior blepharitis1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17410545607545
HP:0000498HP:0025610Posterior blepharitis1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17010545607545
HP:0000498HP:0025609Anterior blepharitis1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17410545607545
HP:0000498HP:0025609Anterior blepharitis1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000498HP:0025610Posterior blepharitis1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000498HP:0025610Posterior blepharitis1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000498HP:0025609Anterior blepharitis1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000498HP:0025609Anterior blepharitis1PKP1 CL E G H5317158668ORPHA12299023601975
HP:0000498HP:0025610Posterior blepharitis1PKP1 CL E G H5317158668ORPHA12329023601975
HP:0000498HP:0025610Posterior blepharitis1PKP1 CL E G H5317158668ORPHA12299023601975
HP:0000498HP:0025609Anterior blepharitis1PKP1 CL E G H5317158668ORPHA12329023601975
HP:0000498HP:0025609Anterior blepharitis1PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1669060602142
HP:0000498HP:0025610Posterior blepharitis1PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1699060602142
HP:0000498HP:0025610Posterior blepharitis1PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1669060602142
HP:0000498HP:0025609Anterior blepharitis1PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1699060602142
HP:0000498HP:0025609Anterior blepharitis1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12399811606462
HP:0000498HP:0025610Posterior blepharitis1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12549811606462
HP:0000498HP:0025610Posterior blepharitis1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12399811606462
HP:0000498HP:0025609Anterior blepharitis1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12549811606462
HP:0000498HP:0025609Anterior blepharitis1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA141825566615743
HP:0000498HP:0025610Posterior blepharitis1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA149225566615743
HP:0000498HP:0025610Posterior blepharitis1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA141825566615743
HP:0000498HP:0025609Anterior blepharitis1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA149225566615743
HP:0000498HP:0025609Anterior blepharitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000498HP:0025610Posterior blepharitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000498HP:0025610Posterior blepharitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000498HP:0025609Anterior blepharitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000498HP:0025609Anterior blepharitis1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA163511111300040
HP:0000498HP:0025610Posterior blepharitis1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA169011111300040
HP:0000498HP:0025610Posterior blepharitis1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA163511111300040
HP:0000498HP:0025609Anterior blepharitis1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA169011111300040
HP:0000498HP:0025609Anterior blepharitis1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13112468606062
HP:0000498HP:0025610Posterior blepharitis1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13222468606062
HP:0000498HP:0025610Posterior blepharitis1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13112468606062
HP:0000498HP:0025609Anterior blepharitis1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13222468606062
HP:0000498HP:0025609Anterior blepharitis1ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116011344606797
HP:0000498HP:0025610Posterior blepharitis1ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116211344606797
HP:0000498HP:0025610Posterior blepharitis1ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116011344606797
HP:0000498HP:0025609Anterior blepharitis1ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116211344606797
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H86261896Dominant cleft palateORPHA137615979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H86261896Dominant cleft palateORPHA144415979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H86261896Dominant cleft palateORPHA137615979603273
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H86261896Dominant cleft palateORPHA144415979603273
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000498HP:0025609Anterior blepharitis1TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11331343607043
HP:0000498HP:0025610Posterior blepharitis1TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11591343607043
HP:0000498HP:0025610Posterior blepharitis1TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11331343607043
HP:0000498HP:0025609Anterior blepharitis1TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11591343607043
HP:0000498HP:0025609Anterior blepharitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000498HP:0025610Posterior blepharitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000498HP:0025610Posterior blepharitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000498HP:0025609Anterior blepharitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000498HP:0500046Seborrhoeic blepharitis2ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1263195603639
HP:0000498HP:0500046Seborrhoeic blepharitis2ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1329195603639
HP:0000498HP:0500046Seborrhoeic blepharitis2APOE CL E G H348158029ORPHA178613107741
HP:0000498HP:0500046Seborrhoeic blepharitis2APOE CL E G H348158029ORPHA180613107741
HP:0000498HP:0500046Seborrhoeic blepharitis2COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000498HP:0500046Seborrhoeic blepharitis2COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000498HP:0500046Seborrhoeic blepharitis2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000498HP:0500046Seborrhoeic blepharitis2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000498HP:0500046Seborrhoeic blepharitis2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000498HP:0500046Seborrhoeic blepharitis2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000498HP:0500046Seborrhoeic blepharitis2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000498HP:0500046Seborrhoeic blepharitis2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000498HP:0500046Seborrhoeic blepharitis2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000498HP:0500046Seborrhoeic blepharitis2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000498HP:0500046Seborrhoeic blepharitis2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000498HP:0500046Seborrhoeic blepharitis2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000498HP:0500046Seborrhoeic blepharitis2MMP1 CL E G H431279408ORPHA1637155120353
HP:0000498HP:0500046Seborrhoeic blepharitis2MMP1 CL E G H431279408ORPHA1657155120353
HP:0000498HP:0500046Seborrhoeic blepharitis2MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17010545607545
HP:0000498HP:0500046Seborrhoeic blepharitis2MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM17410545607545
HP:0000498HP:0500046Seborrhoeic blepharitis2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000498HP:0500046Seborrhoeic blepharitis2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000498HP:0500046Seborrhoeic blepharitis2PKP1 CL E G H5317158668ORPHA12299023601975
HP:0000498HP:0500046Seborrhoeic blepharitis2PKP1 CL E G H5317158668ORPHA12329023601975
HP:0000498HP:0500046Seborrhoeic blepharitis2PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1669060602142
HP:0000498HP:0500046Seborrhoeic blepharitis2PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1699060602142
HP:0000498HP:0500046Seborrhoeic blepharitis2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12399811606462
HP:0000498HP:0500046Seborrhoeic blepharitis2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12549811606462
HP:0000498HP:0500046Seborrhoeic blepharitis2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA141825566615743
HP:0000498HP:0500046Seborrhoeic blepharitis2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA149225566615743
HP:0000498HP:0500046Seborrhoeic blepharitis2SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000498HP:0500046Seborrhoeic blepharitis2SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000498HP:0500046Seborrhoeic blepharitis2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA163511111300040
HP:0000498HP:0500046Seborrhoeic blepharitis2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA169011111300040
HP:0000498HP:0500046Seborrhoeic blepharitis2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13112468606062
HP:0000498HP:0500046Seborrhoeic blepharitis2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13222468606062
HP:0000498HP:0500046Seborrhoeic blepharitis2ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116011344606797
HP:0000498HP:0500046Seborrhoeic blepharitis2ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM116211344606797
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H86261896Dominant cleft palateORPHA137615979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H86261896Dominant cleft palateORPHA144415979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM137615979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM144415979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11331343607043
HP:0000498HP:0500046Seborrhoeic blepharitis2TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM11591343607043
HP:0000498HP:0500046Seborrhoeic blepharitis2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000498HP:0500046Seborrhoeic blepharitis2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000498HP:0000498Blepharitis0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA091826169613129
HP:0000498HP:0000498Blepharitis0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA072926169613129
HP:0000498HP:0000498Blepharitis0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0000498HP:0000498Blepharitis0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0000498HP:0000498Blepharitis0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04262890300126
HP:0000498HP:0000498Blepharitis0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03962890300126
HP:0000498HP:0000498Blepharitis0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0000498HP:0000498Blepharitis0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0000498HP:0000498Blepharitis0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0000498HP:0000498Blepharitis0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0000498HP:0000498Blepharitis0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0000498HP:0000498Blepharitis0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0000498HP:0000498Blepharitis0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0000498HP:0000498Blepharitis0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0000498HP:0000498Blepharitis0GATA1 CL E G H262379277ORPHA03044170305371
HP:0000498HP:0000498Blepharitis0GATA1 CL E G H262379277ORPHA02834170305371
HP:0000498HP:0000498Blepharitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000498HP:0000498Blepharitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000498HP:0000498Blepharitis0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA013614377606470
HP:0000498HP:0000498Blepharitis0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011314377606470
HP:0000498HP:0000498Blepharitis0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08814378606471
HP:0000498HP:0000498Blepharitis0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08014378606471
HP:0000498HP:0000498Blepharitis0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03568609604212
HP:0000498HP:0000498Blepharitis0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02668609604212
HP:0000498HP:0000498Blepharitis0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0000498HP:0000498Blepharitis0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0000498HP:0000498Blepharitis0PLXND1 CL E G H23129570ORPHA01139107604282
HP:0000498HP:0000498Blepharitis0PLXND1 CL E G H23129570ORPHA01129107604282
HP:0000498HP:0000498Blepharitis0REV3L CL E G H5980570ORPHA01299968602776
HP:0000498HP:0000498Blepharitis0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160515888608833
HP:0000498HP:0000498Blepharitis0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0133915888608833
HP:0000498HP:0000498Blepharitis0TBX4 CL E G H9496261279ORPHA023411603601719
HP:0000498HP:0000498Blepharitis0TBX4 CL E G H9496261279ORPHA016111603601719
HP:0000498HP:0000498Blepharitis0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029111727602322
HP:0000498HP:0000498Blepharitis0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA022711727602322
HP:0000498HP:0000498Blepharitis0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0188711730187270
HP:0000498HP:0000498Blepharitis0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160611730187270
HP:0000498HP:0000498Blepharitis0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028811824604319
HP:0000498HP:0000498Blepharitis0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA023011824604319
HP:0000498HP:0000498Blepharitis0TP63 CL E G H862669085ORPHA044415979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H862669085ORPHA037615979603273
HP:0000498HP:0000498Blepharitis0UROS CL E G H739079277ORPHA015212592606938
HP:0000498HP:0000498Blepharitis0UROS CL E G H739079277ORPHA013812592606938
HP:0000498HP:0000498Blepharitis0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018125792613276
HP:0000498HP:0000498Blepharitis0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011825792613276
HP:0000498HP:0000498Blepharitis0WAS CL E G H7454906ORPHA046312731300392
HP:0000498HP:0000498Blepharitis0WAS CL E G H7454906ORPHA041612731300392
HP:0000498HP:0000498Blepharitis0WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000498HP:0000498Blepharitis0WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000498HP:0000498Blepharitis0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029725522612661
HP:0000498HP:0000498Blepharitis0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018525522612661
HP:0000498HP:0000498Blepharitis0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0000498HP:0000498Blepharitis0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0000498HP:0000498Blepharitis0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0000498HP:0000498Blepharitis0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0000498HP:0025609Anterior blepharitis1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA072926169613129
HP:0000498HP:0025610Posterior blepharitis1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA091826169613129
HP:0000498HP:0025610Posterior blepharitis1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA072926169613129
HP:0000498HP:0025609Anterior blepharitis1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA091826169613129
HP:0000498HP:0025609Anterior blepharitis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0000498HP:0025610Posterior blepharitis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0000498HP:0025610Posterior blepharitis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0000498HP:0025609Anterior blepharitis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0000498HP:0025609Anterior blepharitis1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03962890300126
HP:0000498HP:0025610Posterior blepharitis1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04262890300126
HP:0000498HP:0025610Posterior blepharitis1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03962890300126
HP:0000498HP:0025609Anterior blepharitis1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04262890300126
HP:0000498HP:0025609Anterior blepharitis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0000498HP:0025610Posterior blepharitis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0000498HP:0025610Posterior blepharitis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0000498HP:0025609Anterior blepharitis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0000498HP:0025609Anterior blepharitis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0000498HP:0025610Posterior blepharitis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0000498HP:0025610Posterior blepharitis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0000498HP:0025609Anterior blepharitis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0000498HP:0025609Anterior blepharitis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0000498HP:0025610Posterior blepharitis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0000498HP:0025610Posterior blepharitis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0000498HP:0025609Anterior blepharitis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0000498HP:0025609Anterior blepharitis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0000498HP:0025610Posterior blepharitis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0000498HP:0025610Posterior blepharitis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0000498HP:0025609Anterior blepharitis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0000498HP:0025609Anterior blepharitis1GATA1 CL E G H262379277ORPHA02834170305371
HP:0000498HP:0025610Posterior blepharitis1GATA1 CL E G H262379277ORPHA03044170305371
HP:0000498HP:0025610Posterior blepharitis1GATA1 CL E G H262379277ORPHA02834170305371
HP:0000498HP:0025609Anterior blepharitis1GATA1 CL E G H262379277ORPHA03044170305371
HP:0000498HP:0025609Anterior blepharitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000498HP:0025610Posterior blepharitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000498HP:0025610Posterior blepharitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000498HP:0025609Anterior blepharitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000498HP:0025609Anterior blepharitis1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011314377606470
HP:0000498HP:0025610Posterior blepharitis1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA013614377606470
HP:0000498HP:0025610Posterior blepharitis1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011314377606470
HP:0000498HP:0025609Anterior blepharitis1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA013614377606470
HP:0000498HP:0025609Anterior blepharitis1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08014378606471
HP:0000498HP:0025610Posterior blepharitis1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08814378606471
HP:0000498HP:0025610Posterior blepharitis1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08014378606471
HP:0000498HP:0025609Anterior blepharitis1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08814378606471
HP:0000498HP:0025609Anterior blepharitis1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02668609604212
HP:0000498HP:0025610Posterior blepharitis1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03568609604212
HP:0000498HP:0025610Posterior blepharitis1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02668609604212
HP:0000498HP:0025609Anterior blepharitis1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03568609604212
HP:0000498HP:0025609Anterior blepharitis1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0000498HP:0025610Posterior blepharitis1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0000498HP:0025610Posterior blepharitis1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0000498HP:0025609Anterior blepharitis1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0000498HP:0025609Anterior blepharitis1PLXND1 CL E G H23129570ORPHA01129107604282
HP:0000498HP:0025610Posterior blepharitis1PLXND1 CL E G H23129570ORPHA01139107604282
HP:0000498HP:0025610Posterior blepharitis1PLXND1 CL E G H23129570ORPHA01129107604282
HP:0000498HP:0025609Anterior blepharitis1PLXND1 CL E G H23129570ORPHA01139107604282
HP:0000498HP:0025609Anterior blepharitis1REV3L CL E G H5980570ORPHA01299968602776
HP:0000498HP:0025610Posterior blepharitis1REV3L CL E G H5980570ORPHA01299968602776
HP:0000498HP:0025609Anterior blepharitis1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0133915888608833
HP:0000498HP:0025610Posterior blepharitis1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160515888608833
HP:0000498HP:0025610Posterior blepharitis1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0133915888608833
HP:0000498HP:0025609Anterior blepharitis1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160515888608833
HP:0000498HP:0025609Anterior blepharitis1TBX4 CL E G H9496261279ORPHA016111603601719
HP:0000498HP:0025610Posterior blepharitis1TBX4 CL E G H9496261279ORPHA023411603601719
HP:0000498HP:0025610Posterior blepharitis1TBX4 CL E G H9496261279ORPHA016111603601719
HP:0000498HP:0025609Anterior blepharitis1TBX4 CL E G H9496261279ORPHA023411603601719
HP:0000498HP:0025609Anterior blepharitis1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA022711727602322
HP:0000498HP:0025610Posterior blepharitis1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029111727602322
HP:0000498HP:0025610Posterior blepharitis1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA022711727602322
HP:0000498HP:0025609Anterior blepharitis1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029111727602322
HP:0000498HP:0025609Anterior blepharitis1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160611730187270
HP:0000498HP:0025610Posterior blepharitis1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0188711730187270
HP:0000498HP:0025610Posterior blepharitis1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160611730187270
HP:0000498HP:0025609Anterior blepharitis1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0188711730187270
HP:0000498HP:0025609Anterior blepharitis1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA023011824604319
HP:0000498HP:0025610Posterior blepharitis1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028811824604319
HP:0000498HP:0025610Posterior blepharitis1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA023011824604319
HP:0000498HP:0025609Anterior blepharitis1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028811824604319
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H862669085ORPHA037615979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H862669085ORPHA044415979603273
HP:0000498HP:0025610Posterior blepharitis1TP63 CL E G H862669085ORPHA037615979603273
HP:0000498HP:0025609Anterior blepharitis1TP63 CL E G H862669085ORPHA044415979603273
HP:0000498HP:0025609Anterior blepharitis1UROS CL E G H739079277ORPHA013812592606938
HP:0000498HP:0025610Posterior blepharitis1UROS CL E G H739079277ORPHA015212592606938
HP:0000498HP:0025610Posterior blepharitis1UROS CL E G H739079277ORPHA013812592606938
HP:0000498HP:0025609Anterior blepharitis1UROS CL E G H739079277ORPHA015212592606938
HP:0000498HP:0025609Anterior blepharitis1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011825792613276
HP:0000498HP:0025610Posterior blepharitis1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018125792613276
HP:0000498HP:0025610Posterior blepharitis1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011825792613276
HP:0000498HP:0025609Anterior blepharitis1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018125792613276
HP:0000498HP:0025609Anterior blepharitis1WAS CL E G H7454906ORPHA041612731300392
HP:0000498HP:0025610Posterior blepharitis1WAS CL E G H7454906ORPHA046312731300392
HP:0000498HP:0025610Posterior blepharitis1WAS CL E G H7454906ORPHA041612731300392
HP:0000498HP:0025609Anterior blepharitis1WAS CL E G H7454906ORPHA046312731300392
HP:0000498HP:0025609Anterior blepharitis1WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000498HP:0025610Posterior blepharitis1WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000498HP:0025610Posterior blepharitis1WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000498HP:0025609Anterior blepharitis1WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000498HP:0025609Anterior blepharitis1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018525522612661
HP:0000498HP:0025610Posterior blepharitis1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029725522612661
HP:0000498HP:0025610Posterior blepharitis1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018525522612661
HP:0000498HP:0025609Anterior blepharitis1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029725522612661
HP:0000498HP:0025609Anterior blepharitis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0000498HP:0025610Posterior blepharitis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0000498HP:0025610Posterior blepharitis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0000498HP:0025609Anterior blepharitis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0000498HP:0025609Anterior blepharitis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0000498HP:0025610Posterior blepharitis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0000498HP:0025610Posterior blepharitis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0000498HP:0025609Anterior blepharitis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208
HP:0000498HP:0500046Seborrhoeic blepharitis2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA072926169613129
HP:0000498HP:0500046Seborrhoeic blepharitis2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA091826169613129
HP:0000498HP:0500046Seborrhoeic blepharitis2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01002718600811
HP:0000498HP:0500046Seborrhoeic blepharitis2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA01062718600811
HP:0000498HP:0500046Seborrhoeic blepharitis2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03962890300126
HP:0000498HP:0500046Seborrhoeic blepharitis2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04262890300126
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA03603434126340
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA04793434126340
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA01863435133510
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA02833435133510
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA04693436133520
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA05383436133520
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03613437133530
HP:0000498HP:0500046Seborrhoeic blepharitis2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA03743437133530
HP:0000498HP:0500046Seborrhoeic blepharitis2GATA1 CL E G H262379277ORPHA02834170305371
HP:0000498HP:0500046Seborrhoeic blepharitis2GATA1 CL E G H262379277ORPHA03044170305371
HP:0000498HP:0500046Seborrhoeic blepharitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000498HP:0500046Seborrhoeic blepharitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000498HP:0500046Seborrhoeic blepharitis2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011314377606470
HP:0000498HP:0500046Seborrhoeic blepharitis2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA013614377606470
HP:0000498HP:0500046Seborrhoeic blepharitis2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08014378606471
HP:0000498HP:0500046Seborrhoeic blepharitis2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08814378606471
HP:0000498HP:0500046Seborrhoeic blepharitis2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02668609604212
HP:0000498HP:0500046Seborrhoeic blepharitis2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03568609604212
HP:0000498HP:0500046Seborrhoeic blepharitis2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0000498HP:0500046Seborrhoeic blepharitis2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0000498HP:0500046Seborrhoeic blepharitis2PLXND1 CL E G H23129570ORPHA01129107604282
HP:0000498HP:0500046Seborrhoeic blepharitis2PLXND1 CL E G H23129570ORPHA01139107604282
HP:0000498HP:0500046Seborrhoeic blepharitis2REV3L CL E G H5980570ORPHA01299968602776
HP:0000498HP:0500046Seborrhoeic blepharitis2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0133915888608833
HP:0000498HP:0500046Seborrhoeic blepharitis2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160515888608833
HP:0000498HP:0500046Seborrhoeic blepharitis2TBX4 CL E G H9496261279ORPHA016111603601719
HP:0000498HP:0500046Seborrhoeic blepharitis2TBX4 CL E G H9496261279ORPHA023411603601719
HP:0000498HP:0500046Seborrhoeic blepharitis2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA022711727602322
HP:0000498HP:0500046Seborrhoeic blepharitis2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029111727602322
HP:0000498HP:0500046Seborrhoeic blepharitis2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0160611730187270
HP:0000498HP:0500046Seborrhoeic blepharitis2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0188711730187270
HP:0000498HP:0500046Seborrhoeic blepharitis2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA023011824604319
HP:0000498HP:0500046Seborrhoeic blepharitis2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028811824604319
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H862669085ORPHA037615979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2TP63 CL E G H862669085ORPHA044415979603273
HP:0000498HP:0500046Seborrhoeic blepharitis2UROS CL E G H739079277ORPHA013812592606938
HP:0000498HP:0500046Seborrhoeic blepharitis2UROS CL E G H739079277ORPHA015212592606938
HP:0000498HP:0500046Seborrhoeic blepharitis2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA011825792613276
HP:0000498HP:0500046Seborrhoeic blepharitis2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018125792613276
HP:0000498HP:0500046Seborrhoeic blepharitis2WAS CL E G H7454906ORPHA041612731300392
HP:0000498HP:0500046Seborrhoeic blepharitis2WAS CL E G H7454906ORPHA046312731300392
HP:0000498HP:0500046Seborrhoeic blepharitis2WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000498HP:0500046Seborrhoeic blepharitis2WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000498HP:0500046Seborrhoeic blepharitis2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA018525522612661
HP:0000498HP:0500046Seborrhoeic blepharitis2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029725522612661
HP:0000498HP:0500046Seborrhoeic blepharitis2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA022112814611153
HP:0000498HP:0500046Seborrhoeic blepharitis2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA023112814611153
HP:0000498HP:0500046Seborrhoeic blepharitis2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA051812816613208
HP:0000498HP:0500046Seborrhoeic blepharitis2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA054512816613208


Genes (46) :ADAM17 APOE COL7A1 CTC1 DDB2 DKC1 ERCC2 ERCC3 ERCC4 ERCC5 GATA1 GJB6 HDAC8 KMT2A MBTPS2 MMP1 MSMO1 NHP2 NIPBL NOP10 PARN PIGN PKP1 PLCD1 PLXND1 RAD21 REV3L RTEL1 SETD5 SLC39A4 SMC1A SMC3 ST14 TBX4 TERC TERT TINF2 TP63 TRAF3IP2 UROS USB1 WAS WIPF1 WRAP53 XPA XPC

Diseases (27) :614328 158029 79408 1775 910 305000 79277 129500 199 2273 308800 616834 280633 158668 2387 570 37 602400 261279 69085 1896 604292 106260 615527 604173 906 300918
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.