Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skin morphology (HP:0011121)help
Parent Node:
expand
Abnormality of skin pigmentation (HP:0001000)help
..Starting node
..expand
Freckling (HP:0001480)help
Term ID: 1480
Name: Freckling
Synonym: Freckling
Definition: The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Comments:
Reference: HP:0001480
Genes and Diseases:
 
       Child Nodes:
........expandAxillary freckling (HP:0000997) help
........expandInguinal freckling (HP:0030052) help

 Sister Nodes: 
..expandAbnormality of dermal melanosomes (HP:0011125) help
..expandBlotching pigmentation of the skin (HP:0007610) help
..expandDepigmentation/hyperpigmentation of skin (HP:0007483) help
..expandFine, reticulate skin pigmentation (HP:0007617) help
..expandHyperpigmentation of the skin (HP:0000953) help
..expandHypopigmentation of the skin (HP:0001010) help
..expandMelanocytic nevus (HP:0000995) help
..expandMottled pigmentation (HP:0001070) help
..expandNumerous pigmented freckles (HP:0007587) help
..expandPerioral hyperpigmentation (HP:0010802) help
..expandPeriorbital hyperpigmentation (HP:0001106) help
..expandPigmentation anomalies of sun-exposed skin (HP:0007623) help
..expandProfuse pigmented skin lesions (HP:0005587) help
..expandReticulated skin pigmentation (HP:0007427) help
..expandSymmetric great toe depigmentation (HP:0200015) help
..expandVitiligo (HP:0001045) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001480HP:0001480Freckling0ABCB6 CL E G H10058241ORPHA18747605452
HP:0001480HP:0001480Freckling0ABCB6 CL E G H10058241ORPHA18047605452
HP:0001480HP:0001480Freckling0ACD CL E G H65057618ORPHA132125070609377
HP:0001480HP:0001480Freckling0ACD CL E G H65057618ORPHA122925070609377
HP:0001480HP:0001480Freckling0BAP1 CL E G H8314618ORPHA11514950603089
HP:0001480HP:0001480Freckling0BAP1 CL E G H8314618ORPHA11683950603089
HP:0001480HP:0001480Freckling0BRAF CL E G H673500ORPHA16181097164757
HP:0001480HP:0001480Freckling0BRAF CL E G H673500ORPHA16801097164757
HP:0001480HP:0001480Freckling0CDK4 CL E G H1019618ORPHA16401773123829
HP:0001480HP:0001480Freckling0CDK4 CL E G H1019618ORPHA15691773123829
HP:0001480HP:0001480Freckling0CDKN2A CL E G H1029618ORPHA19711787600160
HP:0001480HP:0001480Freckling0CDKN2A CL E G H1029618ORPHA110621787600160
HP:0001480HP:0001480Freckling0CDKN2B CL E G H1030618ORPHA11011788600431
HP:0001480HP:0001480Freckling0CDKN2B CL E G H1030618ORPHA1991788600431
HP:0001480HP:0001480Freckling0CDKN2D CL E G H1032618ORPHA1171790600927
HP:0001480HP:0001480Freckling0CDKN2D CL E G H1032618ORPHA1181790600927
HP:0001480HP:0001480Freckling0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0001480HP:0001480Freckling0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0001480HP:0001480Freckling0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0001480HP:0001480Freckling0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0001480HP:0001480Freckling0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001480HP:0001480Freckling0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001480HP:0001480Freckling0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0001480HP:0001480Freckling0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0001480HP:0001480Freckling0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0001480HP:0001480Freckling0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0001480HP:0001480Freckling0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0001480HP:0001480Freckling0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0001480HP:0001480Freckling0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0001480HP:0001480Freckling0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0001480HP:0001480Freckling0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM18253438609413
HP:0001480HP:0001480Freckling0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM19463438609413
HP:0001480HP:0001480Freckling0ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13433439609412
HP:0001480HP:0001480Freckling0ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13103439609412
HP:0001480HP:0001480Freckling0GPR143 CL E G H493554ORPHA129720145300808
HP:0001480HP:0001480Freckling0GPR143 CL E G H493554ORPHA137420145300808
HP:0001480HP:0001480Freckling0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM15185163604982
HP:0001480HP:0001480Freckling0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM14295163604982
HP:0001480HP:0001480Freckling0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11166859602614
HP:0001480HP:0001480Freckling0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11306859602614
HP:0001480HP:0001480Freckling0MC1R CL E G H415779432ORPHA14286929155555
HP:0001480HP:0001480Freckling0MC1R CL E G H4157618ORPHA14286929155555
HP:0001480HP:0001480Freckling0MC1R CL E G H415779432ORPHA13766929155555
HP:0001480HP:0001480Freckling0MC1R CL E G H4157618ORPHA13766929155555
HP:0001480HP:0001480Freckling0MGMT CL E G H4255618ORPHA1947059156569
HP:0001480HP:0001480Freckling0MITF CL E G H4286618ORPHA13497105156845
HP:0001480HP:0001480Freckling0MITF CL E G H4286618ORPHA13417105156845
HP:0001480HP:0001480Freckling0NF1 CL E G H4763162210Neurofibromatosis, familial spinal162210C1834235OMIM180607765613113
HP:0001480HP:0001480Freckling0NF1 CL E G H4763162210Neurofibromatosis, familial spinal162210C1834235OMIM191517765613113
HP:0001480HP:0001480Freckling0OCA2 CL E G H494879432ORPHA18518101611409
HP:0001480HP:0001480Freckling0OCA2 CL E G H494879432ORPHA16628101611409
HP:0001480HP:0001480Freckling0POT1 CL E G H25913618ORPHA1108217284606478
HP:0001480HP:0001480Freckling0POT1 CL E G H25913618ORPHA191117284606478
HP:0001480HP:0001480Freckling0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1979282600590
HP:0001480HP:0001480Freckling0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1889282600590
HP:0001480HP:0001480Freckling0PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001480HP:0001480Freckling0PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001480HP:0001480Freckling0PTPN11 CL E G H5781500ORPHA16299644176876
HP:0001480HP:0001480Freckling0PTPN11 CL E G H5781500ORPHA15659644176876
HP:0001480HP:0001480Freckling0RAF1 CL E G H5894500ORPHA16259829164760
HP:0001480HP:0001480Freckling0RAF1 CL E G H5894500ORPHA16909829164760
HP:0001480HP:0001480Freckling0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16911194601618
HP:0001480HP:0001480Freckling0SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16711194601618
HP:0001480HP:0001480Freckling0TERF2IP CL E G H54386618ORPHA14819246605061
HP:0001480HP:0001480Freckling0TERF2IP CL E G H54386618ORPHA14719246605061
HP:0001480HP:0001480Freckling0TERT CL E G H7015618ORPHA1188711730187270
HP:0001480HP:0001480Freckling0TERT CL E G H7015618ORPHA1160611730187270
HP:0001480HP:0001480Freckling0TP63 CL E G H8626978ORPHA144415979603273
HP:0001480HP:0001480Freckling0TP63 CL E G H8626978ORPHA137615979603273
HP:0001480HP:0001480Freckling0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0001480HP:0001480Freckling0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0001480HP:0001480Freckling0TYR CL E G H729979431ORPHA135812442606933
HP:0001480HP:0001480Freckling0TYR CL E G H729979434ORPHA135812442606933
HP:0001480HP:0001480Freckling0TYR CL E G H729979431ORPHA125912442606933
HP:0001480HP:0001480Freckling0TYR CL E G H729979434ORPHA125912442606933
HP:0001480HP:0001480Freckling0TYRP1 CL E G H730679433ORPHA137112450115501
HP:0001480HP:0001480Freckling0TYRP1 CL E G H730679433ORPHA126212450115501
HP:0001480HP:0001480Freckling0UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115129304614632
HP:0001480HP:0001480Freckling0UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115629304614632
HP:0001480HP:0001480Freckling0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0001480HP:0001480Freckling0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0001480HP:0001480Freckling0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0001480HP:0001480Freckling0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0001480HP:0030052Inguinal freckling1ABCB6 CL E G H10058241ORPHA18047605452
HP:0001480HP:0000997Axillary freckling1ABCB6 CL E G H10058241ORPHA18747605452
HP:0001480HP:0000997Axillary freckling1ABCB6 CL E G H10058241ORPHA18047605452
HP:0001480HP:0030052Inguinal freckling1ABCB6 CL E G H10058241ORPHA18747605452
HP:0001480HP:0030052Inguinal freckling1ACD CL E G H65057618ORPHA122925070609377
HP:0001480HP:0000997Axillary freckling1ACD CL E G H65057618ORPHA132125070609377
HP:0001480HP:0000997Axillary freckling1ACD CL E G H65057618ORPHA122925070609377
HP:0001480HP:0030052Inguinal freckling1ACD CL E G H65057618ORPHA132125070609377
HP:0001480HP:0000997Axillary freckling1BAP1 CL E G H8314618ORPHA11514950603089
HP:0001480HP:0030052Inguinal freckling1BAP1 CL E G H8314618ORPHA11683950603089
HP:0001480HP:0030052Inguinal freckling1BAP1 CL E G H8314618ORPHA11514950603089
HP:0001480HP:0000997Axillary freckling1BAP1 CL E G H8314618ORPHA11683950603089
HP:0001480HP:0000997Axillary freckling1BRAF CL E G H673500ORPHA16181097164757
HP:0001480HP:0030052Inguinal freckling1BRAF CL E G H673500ORPHA16801097164757
HP:0001480HP:0030052Inguinal freckling1BRAF CL E G H673500ORPHA16181097164757
HP:0001480HP:0000997Axillary freckling1BRAF CL E G H673500ORPHA16801097164757
HP:0001480HP:0030052Inguinal freckling1CDK4 CL E G H1019618ORPHA15691773123829
HP:0001480HP:0000997Axillary freckling1CDK4 CL E G H1019618ORPHA16401773123829
HP:0001480HP:0000997Axillary freckling1CDK4 CL E G H1019618ORPHA15691773123829
HP:0001480HP:0030052Inguinal freckling1CDK4 CL E G H1019618ORPHA16401773123829
HP:0001480HP:0000997Axillary freckling1CDKN2A CL E G H1029618ORPHA19711787600160
HP:0001480HP:0030052Inguinal freckling1CDKN2A CL E G H1029618ORPHA110621787600160
HP:0001480HP:0030052Inguinal freckling1CDKN2A CL E G H1029618ORPHA19711787600160
HP:0001480HP:0000997Axillary freckling1CDKN2A CL E G H1029618ORPHA110621787600160
HP:0001480HP:0030052Inguinal freckling1CDKN2B CL E G H1030618ORPHA1991788600431
HP:0001480HP:0000997Axillary freckling1CDKN2B CL E G H1030618ORPHA11011788600431
HP:0001480HP:0000997Axillary freckling1CDKN2B CL E G H1030618ORPHA1991788600431
HP:0001480HP:0030052Inguinal freckling1CDKN2B CL E G H1030618ORPHA11011788600431
HP:0001480HP:0000997Axillary freckling1CDKN2D CL E G H1032618ORPHA1171790600927
HP:0001480HP:0030052Inguinal freckling1CDKN2D CL E G H1032618ORPHA1181790600927
HP:0001480HP:0030052Inguinal freckling1CDKN2D CL E G H1032618ORPHA1171790600927
HP:0001480HP:0000997Axillary freckling1CDKN2D CL E G H1032618ORPHA1181790600927
HP:0001480HP:0030052Inguinal freckling1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0001480HP:0030052Inguinal freckling1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0001480HP:0000997Axillary freckling1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0001480HP:0000997Axillary freckling1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0001480HP:0000997Axillary freckling1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0001480HP:0000997Axillary freckling1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0001480HP:0030052Inguinal freckling1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0001480HP:0030052Inguinal freckling1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0001480HP:0030052Inguinal freckling1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001480HP:0000997Axillary freckling1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001480HP:0000997Axillary freckling1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001480HP:0030052Inguinal freckling1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001480HP:0030052Inguinal freckling1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0001480HP:0030052Inguinal freckling1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0001480HP:0000997Axillary freckling1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0001480HP:0000997Axillary freckling1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0001480HP:0000997Axillary freckling1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0001480HP:0030052Inguinal freckling1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0001480HP:0030052Inguinal freckling1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0001480HP:0000997Axillary freckling1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0001480HP:0000997Axillary freckling1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0001480HP:0000997Axillary freckling1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0001480HP:0030052Inguinal freckling1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0001480HP:0030052Inguinal freckling1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0001480HP:0030052Inguinal freckling1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0001480HP:0030052Inguinal freckling1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0001480HP:0000997Axillary freckling1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0001480HP:0000997Axillary freckling1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0001480HP:0000997Axillary freckling1ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM18253438609413
HP:0001480HP:0030052Inguinal freckling1ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM19463438609413
HP:0001480HP:0030052Inguinal freckling1ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM18253438609413
HP:0001480HP:0000997Axillary freckling1ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM19463438609413
HP:0001480HP:0030052Inguinal freckling1ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13103439609412
HP:0001480HP:0000997Axillary freckling1ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13433439609412
HP:0001480HP:0000997Axillary freckling1ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13103439609412
HP:0001480HP:0030052Inguinal freckling1ERCC8 CL E G H1161614621UV-sensitive syndrome 2614621C3553298OMIM13433439609412
HP:0001480HP:0000997Axillary freckling1GPR143 CL E G H493554ORPHA129720145300808
HP:0001480HP:0030052Inguinal freckling1GPR143 CL E G H493554ORPHA137420145300808
HP:0001480HP:0030052Inguinal freckling1GPR143 CL E G H493554ORPHA129720145300808
HP:0001480HP:0000997Axillary freckling1GPR143 CL E G H493554ORPHA137420145300808
HP:0001480HP:0030052Inguinal freckling1HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM14295163604982
HP:0001480HP:0000997Axillary freckling1HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM15185163604982
HP:0001480HP:0000997Axillary freckling1HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM14295163604982
HP:0001480HP:0030052Inguinal freckling1HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM15185163604982
HP:0001480HP:0000997Axillary freckling1MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11166859602614
HP:0001480HP:0030052Inguinal freckling1MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11306859602614
HP:0001480HP:0030052Inguinal freckling1MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11166859602614
HP:0001480HP:0000997Axillary freckling1MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM11306859602614
HP:0001480HP:0030052Inguinal freckling1MC1R CL E G H4157618ORPHA13766929155555
HP:0001480HP:0000997Axillary freckling1MC1R CL E G H415779432ORPHA14286929155555
HP:0001480HP:0000997Axillary freckling1MC1R CL E G H4157618ORPHA14286929155555
HP:0001480HP:0000997Axillary freckling1MC1R CL E G H415779432ORPHA13766929155555
HP:0001480HP:0030052Inguinal freckling1MC1R CL E G H415779432ORPHA14286929155555
HP:0001480HP:0000997Axillary freckling1MC1R CL E G H4157618ORPHA13766929155555
HP:0001480HP:0030052Inguinal freckling1MC1R CL E G H4157618ORPHA14286929155555
HP:0001480HP:0030052Inguinal freckling1MC1R CL E G H415779432ORPHA13766929155555
HP:0001480HP:0000997Axillary freckling1MGMT CL E G H4255618ORPHA1947059156569
HP:0001480HP:0030052Inguinal freckling1MGMT CL E G H4255618ORPHA1947059156569
HP:0001480HP:0000997Axillary freckling1MITF CL E G H4286618ORPHA13497105156845
HP:0001480HP:0000997Axillary freckling1MITF CL E G H4286618ORPHA13417105156845
HP:0001480HP:0030052Inguinal freckling1MITF CL E G H4286618ORPHA13497105156845
HP:0001480HP:0030052Inguinal freckling1MITF CL E G H4286618ORPHA13417105156845
HP:0001480HP:0000997Axillary freckling1NF1 CL E G H4763162210Neurofibromatosis, familial spinal162210C1834235OMIM180607765613113
HP:0001480HP:0030052Inguinal freckling1NF1 CL E G H4763162210Neurofibromatosis, familial spinal162210C1834235OMIM191517765613113
HP:0001480HP:0030052Inguinal freckling1NF1 CL E G H4763162210Neurofibromatosis, familial spinal162210C1834235OMIM180607765613113
HP:0001480HP:0000997Axillary freckling1NF1 CL E G H4763162210Neurofibromatosis, familial spinal162210C1834235OMIM191517765613113
HP:0001480HP:0030052Inguinal freckling1OCA2 CL E G H494879432ORPHA18518101611409
HP:0001480HP:0030052Inguinal freckling1OCA2 CL E G H494879432ORPHA16628101611409
HP:0001480HP:0000997Axillary freckling1OCA2 CL E G H494879432ORPHA18518101611409
HP:0001480HP:0000997Axillary freckling1OCA2 CL E G H494879432ORPHA16628101611409
HP:0001480HP:0030052Inguinal freckling1POT1 CL E G H25913618ORPHA1108217284606478
HP:0001480HP:0030052Inguinal freckling1POT1 CL E G H25913618ORPHA191117284606478
HP:0001480HP:0000997Axillary freckling1POT1 CL E G H25913618ORPHA1108217284606478
HP:0001480HP:0000997Axillary freckling1POT1 CL E G H25913618ORPHA191117284606478
HP:0001480HP:0030052Inguinal freckling1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1889282600590
HP:0001480HP:0000997Axillary freckling1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1979282600590
HP:0001480HP:0000997Axillary freckling1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1889282600590
HP:0001480HP:0030052Inguinal freckling1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM1979282600590
HP:0001480HP:0030052Inguinal freckling1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001480HP:0000997Axillary freckling1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001480HP:0000997Axillary freckling1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM16239388188830
HP:0001480HP:0030052Inguinal freckling1PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM17259388188830
HP:0001480HP:0030052Inguinal freckling1PTPN11 CL E G H5781500ORPHA15659644176876
HP:0001480HP:0000997Axillary freckling1PTPN11 CL E G H5781500ORPHA16299644176876
HP:0001480HP:0000997Axillary freckling1PTPN11 CL E G H5781500ORPHA15659644176876
HP:0001480HP:0030052Inguinal freckling1PTPN11 CL E G H5781500ORPHA16299644176876
HP:0001480HP:0000997Axillary freckling1RAF1 CL E G H5894500ORPHA16259829164760
HP:0001480HP:0030052Inguinal freckling1RAF1 CL E G H5894500ORPHA16909829164760
HP:0001480HP:0030052Inguinal freckling1RAF1 CL E G H5894500ORPHA16259829164760
HP:0001480HP:0000997Axillary freckling1RAF1 CL E G H5894500ORPHA16909829164760
HP:0001480HP:0030052Inguinal freckling1SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16711194601618
HP:0001480HP:0000997Axillary freckling1SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16911194601618
HP:0001480HP:0000997Axillary freckling1SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16711194601618
HP:0001480HP:0030052Inguinal freckling1SOX18 CL E G H54345137940Glomerulonephritis with sparse hair and telangiectases137940C1841989OMIM16911194601618
HP:0001480HP:0000997Axillary freckling1TERF2IP CL E G H54386618ORPHA14819246605061
HP:0001480HP:0000997Axillary freckling1TERF2IP CL E G H54386618ORPHA14719246605061
HP:0001480HP:0030052Inguinal freckling1TERF2IP CL E G H54386618ORPHA14819246605061
HP:0001480HP:0030052Inguinal freckling1TERF2IP CL E G H54386618ORPHA14719246605061
HP:0001480HP:0030052Inguinal freckling1TERT CL E G H7015618ORPHA1188711730187270
HP:0001480HP:0030052Inguinal freckling1TERT CL E G H7015618ORPHA1160611730187270
HP:0001480HP:0000997Axillary freckling1TERT CL E G H7015618ORPHA1188711730187270
HP:0001480HP:0000997Axillary freckling1TERT CL E G H7015618ORPHA1160611730187270
HP:0001480HP:0000997Axillary freckling1TP63 CL E G H8626978ORPHA144415979603273
HP:0001480HP:0000997Axillary freckling1TP63 CL E G H8626978ORPHA137615979603273
HP:0001480HP:0030052Inguinal freckling1TP63 CL E G H8626978ORPHA144415979603273
HP:0001480HP:0030052Inguinal freckling1TP63 CL E G H8626978ORPHA137615979603273
HP:0001480HP:0000997Axillary freckling1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0001480HP:0030052Inguinal freckling1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0001480HP:0030052Inguinal freckling1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0001480HP:0000997Axillary freckling1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0001480HP:0030052Inguinal freckling1TYR CL E G H729979431ORPHA135812442606933
HP:0001480HP:0030052Inguinal freckling1TYR CL E G H729979434ORPHA135812442606933
HP:0001480HP:0030052Inguinal freckling1TYR CL E G H729979431ORPHA125912442606933
HP:0001480HP:0030052Inguinal freckling1TYR CL E G H729979434ORPHA125912442606933
HP:0001480HP:0000997Axillary freckling1TYR CL E G H729979431ORPHA135812442606933
HP:0001480HP:0000997Axillary freckling1TYR CL E G H729979434ORPHA135812442606933
HP:0001480HP:0000997Axillary freckling1TYR CL E G H729979431ORPHA125912442606933
HP:0001480HP:0000997Axillary freckling1TYR CL E G H729979434ORPHA125912442606933
HP:0001480HP:0000997Axillary freckling1TYRP1 CL E G H730679433ORPHA137112450115501
HP:0001480HP:0000997Axillary freckling1TYRP1 CL E G H730679433ORPHA126212450115501
HP:0001480HP:0030052Inguinal freckling1TYRP1 CL E G H730679433ORPHA137112450115501
HP:0001480HP:0030052Inguinal freckling1TYRP1 CL E G H730679433ORPHA126212450115501
HP:0001480HP:0000997Axillary freckling1UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115129304614632
HP:0001480HP:0030052Inguinal freckling1UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115629304614632
HP:0001480HP:0030052Inguinal freckling1UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115129304614632
HP:0001480HP:0000997Axillary freckling1UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115629304614632
HP:0001480HP:0000997Axillary freckling1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0001480HP:0000997Axillary freckling1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0001480HP:0030052Inguinal freckling1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0001480HP:0030052Inguinal freckling1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0001480HP:0030052Inguinal freckling1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0001480HP:0030052Inguinal freckling1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0001480HP:0000997Axillary freckling1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0001480HP:0000997Axillary freckling1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001480HP:0001480Freckling0CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA05231762114021
HP:0001480HP:0001480Freckling0CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA04101762114021
HP:0001480HP:0001480Freckling0NBN CL E G H4683647ORPHA026407652602667
HP:0001480HP:0001480Freckling0NBN CL E G H4683647ORPHA024027652602667
HP:0001480HP:0001480Freckling0TP63 CL E G H862669085ORPHA044415979603273
HP:0001480HP:0001480Freckling0TP63 CL E G H862669085ORPHA037615979603273
HP:0001480HP:0030052Inguinal freckling1CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA05231762114021
HP:0001480HP:0030052Inguinal freckling1CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA04101762114021
HP:0001480HP:0000997Axillary freckling1CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA05231762114021
HP:0001480HP:0000997Axillary freckling1CDH3 CL E G H10011573Craniofacial dysostosis arthrogryposis progeroid appearenceORPHA04101762114021
HP:0001480HP:0000997Axillary freckling1NBN CL E G H4683647ORPHA026407652602667
HP:0001480HP:0000997Axillary freckling1NBN CL E G H4683647ORPHA024027652602667
HP:0001480HP:0030052Inguinal freckling1NBN CL E G H4683647ORPHA026407652602667
HP:0001480HP:0030052Inguinal freckling1NBN CL E G H4683647ORPHA024027652602667
HP:0001480HP:0000997Axillary freckling1TP63 CL E G H862669085ORPHA044415979603273
HP:0001480HP:0000997Axillary freckling1TP63 CL E G H862669085ORPHA037615979603273
HP:0001480HP:0030052Inguinal freckling1TP63 CL E G H862669085ORPHA044415979603273
HP:0001480HP:0030052Inguinal freckling1TP63 CL E G H862669085ORPHA037615979603273


Genes (44) :ABCB6 ACD BAP1 BRAF CDH3 CDK4 CDKN2A CDKN2B CDKN2D DDB2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 GPR143 HPS1 MAP3K7 MC1R MGMT MITF MLH1 MSH2 MSH6 NBN NF1 OCA2 PMS2 POT1 PPP1CB PRKAR1A PTPN11 RAF1 SOX18 SPRED1 TERF2IP TERT TP63 TYR TYRP1 UVSSA XPA XPC

Diseases (30) :241 618 500 1573 910 601675 610651 600630 614621 54 203300 157800 79432 647 162210 617506 160980 137940 69085 978 103285 79434 79431 79433 614640 276300 193520 162200 601321 611431
 

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