Human Phenotype Ontology 
Grandparent Node:
expand
Neoplasm (HP:0002664)help
Parent Node:
expand
Neoplasm by histology (HP:0011792)help
..Starting node
..expand
Melanoma (HP:0002861)help
Term ID: 2861
Name: Melanoma
Synonym: Cancer of skin pigment cells; Malignant melanoma; Skin cancer (melanoma)
Definition: The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
Comments:
Reference: HP:0002861
Genes and Diseases:
 
       Child Nodes:
........expandIntraocular melanoma (HP:0007716) help
................... HP:0011524 Iris melanoma
................... HP:0012054 Choroidal melanoma
................... HP:0012055 Ciliary body melanoma
........expandCutaneous melanoma (HP:0012056) help
................... HP:0012057 Superficial spreading melanoma
................... HP:0012058 Nodular melanoma
................... HP:0012059 Lentigo maligna melanoma
................... HP:0012060 Acral lentiginous melanoma

 Sister Nodes: 
..expandEmbryonal neoplasm (HP:0002898) help
..expandEpithelial neoplasm (HP:0031492) help
..expandFibrous tissue neoplasm (HP:0012316) help
..expandHamartoma (HP:0010566) help
..expandNervous tissue neoplasm (HP:0030060) help
..expandSarcoma (HP:0100242) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002861HP:0002861Melanoma0ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0002861Melanoma0ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0002861Melanoma0BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0002861Melanoma0BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0002861Melanoma0CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0002861Melanoma0CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0002861Melanoma0CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0002861Melanoma0CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0002861Melanoma0CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0002861Melanoma0CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0002861Melanoma0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0002861Melanoma0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0002861Melanoma0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0002861Melanoma0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0002861Melanoma0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0002861Melanoma0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0002861Melanoma0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0002861Melanoma0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0002861Melanoma0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0002861Melanoma0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0002861Melanoma0MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0002861Melanoma0MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0002861Melanoma0MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0002861Melanoma0MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0002861Melanoma0MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0002861Melanoma0NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0002861Melanoma0NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0002861Melanoma0POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0002861Melanoma0POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0002861Melanoma0POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0002861Melanoma0POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0002861Melanoma0TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0002861Melanoma0TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0002861Melanoma0TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0002861Melanoma0TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0002861Melanoma0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0002861Melanoma0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0002861Melanoma0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0002861Melanoma0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0002861Melanoma0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0002861Melanoma0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0007716Uveal melanoma1ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0012056Cutaneous melanoma1ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0007716Uveal melanoma1ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0012056Cutaneous melanoma1ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0007716Uveal melanoma1BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0012056Cutaneous melanoma1BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0007716Uveal melanoma1BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0012056Cutaneous melanoma1BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0007716Uveal melanoma1CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0012056Cutaneous melanoma1CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0007716Uveal melanoma1CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012056Cutaneous melanoma1CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012056Cutaneous melanoma1CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0007716Uveal melanoma1CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0012056Cutaneous melanoma1CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0007716Uveal melanoma1CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0012056Cutaneous melanoma1CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0007716Uveal melanoma1CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0012056Cutaneous melanoma1CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0007716Uveal melanoma1CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0007716Uveal melanoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0012056Cutaneous melanoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0007716Uveal melanoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0012056Cutaneous melanoma1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0007716Uveal melanoma1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012056Cutaneous melanoma1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0007716Uveal melanoma1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0012056Cutaneous melanoma1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0007716Uveal melanoma1ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0012056Cutaneous melanoma1ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0007716Uveal melanoma1ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0012056Cutaneous melanoma1ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0007716Uveal melanoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0012056Cutaneous melanoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0007716Uveal melanoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0012056Cutaneous melanoma1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0007716Uveal melanoma1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0012056Cutaneous melanoma1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0007716Uveal melanoma1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0012056Cutaneous melanoma1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0007716Uveal melanoma1ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0012056Cutaneous melanoma1ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0007716Uveal melanoma1ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0012056Cutaneous melanoma1ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0007716Uveal melanoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0012056Cutaneous melanoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0007716Uveal melanoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0012056Cutaneous melanoma1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0007716Uveal melanoma1ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0012056Cutaneous melanoma1ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0007716Uveal melanoma1ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012056Cutaneous melanoma1ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012056Cutaneous melanoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0007716Uveal melanoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0012056Cutaneous melanoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0007716Uveal melanoma1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0007716Uveal melanoma1ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0012056Cutaneous melanoma1ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0007716Uveal melanoma1ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012056Cutaneous melanoma1ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012056Cutaneous melanoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0007716Uveal melanoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0012056Cutaneous melanoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0007716Uveal melanoma1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0007716Uveal melanoma1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0012056Cutaneous melanoma1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0007716Uveal melanoma1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0012056Cutaneous melanoma1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0007716Uveal melanoma1MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0012056Cutaneous melanoma1MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0007716Uveal melanoma1MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0012056Cutaneous melanoma1MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0007716Uveal melanoma1MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0012056Cutaneous melanoma1MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0007716Uveal melanoma1MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0012056Cutaneous melanoma1MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0007716Uveal melanoma1MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0012056Cutaneous melanoma1MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0007716Uveal melanoma1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012056Cutaneous melanoma1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012056Cutaneous melanoma1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0007716Uveal melanoma1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0007716Uveal melanoma1POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012056Cutaneous melanoma1POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012056Cutaneous melanoma1POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0007716Uveal melanoma1POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0007716Uveal melanoma1POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0012056Cutaneous melanoma1POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0007716Uveal melanoma1POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012056Cutaneous melanoma1POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012056Cutaneous melanoma1TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0007716Uveal melanoma1TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0007716Uveal melanoma1TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012056Cutaneous melanoma1TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012056Cutaneous melanoma1TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0007716Uveal melanoma1TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0012056Cutaneous melanoma1TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0007716Uveal melanoma1TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0007716Uveal melanoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012056Cutaneous melanoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012056Cutaneous melanoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0007716Uveal melanoma1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0007716Uveal melanoma1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0012056Cutaneous melanoma1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0007716Uveal melanoma1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0012056Cutaneous melanoma1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0007716Uveal melanoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0012056Cutaneous melanoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0007716Uveal melanoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012056Cutaneous melanoma1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012058Nodular melanoma2ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0012055Ciliary body melanoma2ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0012054Choroidal melanoma2ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0012060Acral lentiginous melanoma2ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0012058Nodular melanoma2ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0012055Ciliary body melanoma2ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0012054Choroidal melanoma2ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0012060Acral lentiginous melanoma2ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0012059Lentigo maligna melanoma2ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0012057Superficial spreading melanoma2ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0011524Iris melanoma2ACD CL E G H65057618ORPHA132125070609377
HP:0002861HP:0012059Lentigo maligna melanoma2ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0012057Superficial spreading melanoma2ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0011524Iris melanoma2ACD CL E G H65057618ORPHA122925070609377
HP:0002861HP:0012060Acral lentiginous melanoma2BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0012058Nodular melanoma2BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0012055Ciliary body melanoma2BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0012054Choroidal melanoma2BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0012058Nodular melanoma2BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0012055Ciliary body melanoma2BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0012054Choroidal melanoma2BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0012060Acral lentiginous melanoma2BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0012059Lentigo maligna melanoma2BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0012057Superficial spreading melanoma2BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0011524Iris melanoma2BAP1 CL E G H8314618ORPHA11683950603089
HP:0002861HP:0012059Lentigo maligna melanoma2BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0012057Superficial spreading melanoma2BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0011524Iris melanoma2BAP1 CL E G H8314618ORPHA11514950603089
HP:0002861HP:0012060Acral lentiginous melanoma2CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0012058Nodular melanoma2CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0012055Ciliary body melanoma2CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0012054Choroidal melanoma2CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0012060Acral lentiginous melanoma2CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012058Nodular melanoma2CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012055Ciliary body melanoma2CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012054Choroidal melanoma2CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012059Lentigo maligna melanoma2CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0012057Superficial spreading melanoma2CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0011524Iris melanoma2CDK4 CL E G H1019618ORPHA16401773123829
HP:0002861HP:0012059Lentigo maligna melanoma2CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012057Superficial spreading melanoma2CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0011524Iris melanoma2CDK4 CL E G H1019618ORPHA15691773123829
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0012058Nodular melanoma2CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0012055Ciliary body melanoma2CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0012054Choroidal melanoma2CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0012058Nodular melanoma2CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0012055Ciliary body melanoma2CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0012054Choroidal melanoma2CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0011524Iris melanoma2CDKN2A CL E G H1029618ORPHA110621787600160
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0011524Iris melanoma2CDKN2A CL E G H1029618ORPHA19711787600160
HP:0002861HP:0012055Ciliary body melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012054Choroidal melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012058Nodular melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0011524Iris melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0011524Iris melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM19711787600160
HP:0002861HP:0012055Ciliary body melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0012054Choroidal melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0012058Nodular melanoma2CDKN2A CL E G H1029606719Melanoma-pancreatic cancer syndrome606719C1838547OMIM110621787600160
HP:0002861HP:0012054Choroidal melanoma2CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0012058Nodular melanoma2CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0012055Ciliary body melanoma2CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0012058Nodular melanoma2CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0012055Ciliary body melanoma2CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0012054Choroidal melanoma2CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0011524Iris melanoma2CDKN2B CL E G H1030618ORPHA11011788600431
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0011524Iris melanoma2CDKN2B CL E G H1030618ORPHA1991788600431
HP:0002861HP:0012054Choroidal melanoma2CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0012058Nodular melanoma2CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0012055Ciliary body melanoma2CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0012054Choroidal melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0012060Acral lentiginous melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0012058Nodular melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0012055Ciliary body melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0011524Iris melanoma2CDKN2D CL E G H1032618ORPHA1181790600927
HP:0002861HP:0012059Lentigo maligna melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0012057Superficial spreading melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0011524Iris melanoma2CDKN2D CL E G H1032618ORPHA1171790600927
HP:0002861HP:0012058Nodular melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0012055Ciliary body melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0012054Choroidal melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0012060Acral lentiginous melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0012059Lentigo maligna melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0012057Superficial spreading melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0011524Iris melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0012059Lentigo maligna melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0012057Superficial spreading melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0011524Iris melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0002861HP:0012058Nodular melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0012055Ciliary body melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0012054Choroidal melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0012060Acral lentiginous melanoma2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0002861HP:0012055Ciliary body melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0012054Choroidal melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0012060Acral lentiginous melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0012058Nodular melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0011524Iris melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012059Lentigo maligna melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012057Superficial spreading melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012059Lentigo maligna melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0012057Superficial spreading melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0011524Iris melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0002861HP:0012055Ciliary body melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012054Choroidal melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012060Acral lentiginous melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012058Nodular melanoma2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0012058Nodular melanoma2ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0012054Choroidal melanoma2ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0012058Nodular melanoma2ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0011524Iris melanoma2ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0012057Superficial spreading melanoma2ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0011524Iris melanoma2ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0012057Superficial spreading melanoma2ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0002861HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0012054Choroidal melanoma2ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0002861HP:0012058Nodular melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0012054Choroidal melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0012057Superficial spreading melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0011524Iris melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0012057Superficial spreading melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0011524Iris melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0012058Nodular melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0012054Choroidal melanoma2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0002861HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0012054Choroidal melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0012058Nodular melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0012057Superficial spreading melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0011524Iris melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0012057Superficial spreading melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0011524Iris melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0002861HP:0012055Ciliary body melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0012054Choroidal melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0012058Nodular melanoma2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0002861HP:0012055Ciliary body melanoma2ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0012054Choroidal melanoma2ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0012058Nodular melanoma2ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0012055Ciliary body melanoma2ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0012054Choroidal melanoma2ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0012058Nodular melanoma2ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0011524Iris melanoma2ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0012057Superficial spreading melanoma2ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0002861HP:0011524Iris melanoma2ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0012057Superficial spreading melanoma2ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0012058Nodular melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0012055Ciliary body melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0012054Choroidal melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0012057Superficial spreading melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0011524Iris melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0012057Superficial spreading melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0011524Iris melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0012058Nodular melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0012055Ciliary body melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0012054Choroidal melanoma2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0002861HP:0012055Ciliary body melanoma2ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0012054Choroidal melanoma2ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0012058Nodular melanoma2ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0012055Ciliary body melanoma2ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012054Choroidal melanoma2ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012058Nodular melanoma2ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012057Superficial spreading melanoma2ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0011524Iris melanoma2ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0002861HP:0011524Iris melanoma2ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012057Superficial spreading melanoma2ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0012058Nodular melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0012055Ciliary body melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0012054Choroidal melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0012057Superficial spreading melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0011524Iris melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0012057Superficial spreading melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0011524Iris melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0012058Nodular melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0012055Ciliary body melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0012054Choroidal melanoma2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0002861HP:0012055Ciliary body melanoma2ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0012054Choroidal melanoma2ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0012058Nodular melanoma2ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0012055Ciliary body melanoma2ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012054Choroidal melanoma2ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012058Nodular melanoma2ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012057Superficial spreading melanoma2ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0011524Iris melanoma2ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0002861HP:0012057Superficial spreading melanoma2ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0011524Iris melanoma2ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0012058Nodular melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0012055Ciliary body melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0012054Choroidal melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0012057Superficial spreading melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0011524Iris melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0012057Superficial spreading melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0011524Iris melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0002861HP:0012054Choroidal melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0012058Nodular melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0012055Ciliary body melanoma2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0002861HP:0012055Ciliary body melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0012054Choroidal melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0012058Nodular melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0011524Iris melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0012057Superficial spreading melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0011524Iris melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0012059Lentigo maligna melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0012057Superficial spreading melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0002861HP:0012055Ciliary body melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0012054Choroidal melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0012060Acral lentiginous melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0012058Nodular melanoma2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0002861HP:0012054Choroidal melanoma2MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0012060Acral lentiginous melanoma2MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0012058Nodular melanoma2MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0012055Ciliary body melanoma2MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0012054Choroidal melanoma2MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0012060Acral lentiginous melanoma2MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0012058Nodular melanoma2MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0012055Ciliary body melanoma2MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0012059Lentigo maligna melanoma2MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0012057Superficial spreading melanoma2MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0011524Iris melanoma2MC1R CL E G H4157618ORPHA14286929155555
HP:0002861HP:0012059Lentigo maligna melanoma2MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0012057Superficial spreading melanoma2MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0011524Iris melanoma2MC1R CL E G H4157618ORPHA13766929155555
HP:0002861HP:0012054Choroidal melanoma2MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0012058Nodular melanoma2MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0012059Lentigo maligna melanoma2MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0012060Acral lentiginous melanoma2MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0012055Ciliary body melanoma2MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0012057Superficial spreading melanoma2MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0011524Iris melanoma2MGMT CL E G H4255618ORPHA1947059156569
HP:0002861HP:0012059Lentigo maligna melanoma2MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0012057Superficial spreading melanoma2MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0011524Iris melanoma2MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0012059Lentigo maligna melanoma2MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0012057Superficial spreading melanoma2MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0011524Iris melanoma2MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0012060Acral lentiginous melanoma2MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0012058Nodular melanoma2MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0012055Ciliary body melanoma2MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0012054Choroidal melanoma2MITF CL E G H4286618ORPHA13497105156845
HP:0002861HP:0012058Nodular melanoma2MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0012055Ciliary body melanoma2MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0012054Choroidal melanoma2MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0012060Acral lentiginous melanoma2MITF CL E G H4286618ORPHA13417105156845
HP:0002861HP:0012054Choroidal melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0012060Acral lentiginous melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0012058Nodular melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0012055Ciliary body melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0012059Lentigo maligna melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012057Superficial spreading melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0011524Iris melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012059Lentigo maligna melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0012057Superficial spreading melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0011524Iris melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12127989164790
HP:0002861HP:0012054Choroidal melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012060Acral lentiginous melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012058Nodular melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012055Ciliary body melanoma2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12267989164790
HP:0002861HP:0012054Choroidal melanoma2POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0012060Acral lentiginous melanoma2POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0012058Nodular melanoma2POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0012055Ciliary body melanoma2POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0012059Lentigo maligna melanoma2POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012057Superficial spreading melanoma2POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0011524Iris melanoma2POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012059Lentigo maligna melanoma2POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0012057Superficial spreading melanoma2POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0011524Iris melanoma2POLH CL E G H542990342ORPHA13039181603968
HP:0002861HP:0012054Choroidal melanoma2POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012060Acral lentiginous melanoma2POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012058Nodular melanoma2POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012055Ciliary body melanoma2POLH CL E G H542990342ORPHA13079181603968
HP:0002861HP:0012059Lentigo maligna melanoma2POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0012057Superficial spreading melanoma2POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0011524Iris melanoma2POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0012059Lentigo maligna melanoma2POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012057Superficial spreading melanoma2POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0011524Iris melanoma2POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012060Acral lentiginous melanoma2POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0012058Nodular melanoma2POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0012055Ciliary body melanoma2POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0012054Choroidal melanoma2POT1 CL E G H25913618ORPHA1108217284606478
HP:0002861HP:0012060Acral lentiginous melanoma2POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012058Nodular melanoma2POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012055Ciliary body melanoma2POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012054Choroidal melanoma2POT1 CL E G H25913618ORPHA191117284606478
HP:0002861HP:0012059Lentigo maligna melanoma2TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0012057Superficial spreading melanoma2TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0011524Iris melanoma2TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0012059Lentigo maligna melanoma2TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012057Superficial spreading melanoma2TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0011524Iris melanoma2TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012060Acral lentiginous melanoma2TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0012058Nodular melanoma2TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0012055Ciliary body melanoma2TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0012054Choroidal melanoma2TERF2IP CL E G H54386618ORPHA14819246605061
HP:0002861HP:0012060Acral lentiginous melanoma2TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012058Nodular melanoma2TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012055Ciliary body melanoma2TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012054Choroidal melanoma2TERF2IP CL E G H54386618ORPHA14719246605061
HP:0002861HP:0012059Lentigo maligna melanoma2TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0012057Superficial spreading melanoma2TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0011524Iris melanoma2TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0012059Lentigo maligna melanoma2TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0012057Superficial spreading melanoma2TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0011524Iris melanoma2TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0012054Choroidal melanoma2TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0012060Acral lentiginous melanoma2TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0012058Nodular melanoma2TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0012055Ciliary body melanoma2TERT CL E G H7015618ORPHA1188711730187270
HP:0002861HP:0012060Acral lentiginous melanoma2TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0012058Nodular melanoma2TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0012055Ciliary body melanoma2TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0012054Choroidal melanoma2TERT CL E G H7015618ORPHA1160611730187270
HP:0002861HP:0012054Choroidal melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0012060Acral lentiginous melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0012058Nodular melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0012055Ciliary body melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0012059Lentigo maligna melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012057Superficial spreading melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0011524Iris melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012059Lentigo maligna melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0012057Superficial spreading melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0011524Iris melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0002861HP:0012054Choroidal melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012060Acral lentiginous melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012058Nodular melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012055Ciliary body melanoma2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0002861HP:0012054Choroidal melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0012060Acral lentiginous melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0012058Nodular melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0012055Ciliary body melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0012059Lentigo maligna melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0012057Superficial spreading melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0011524Iris melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0012059Lentigo maligna melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0012057Superficial spreading melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0011524Iris melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0002861HP:0012054Choroidal melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0012060Acral lentiginous melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0012058Nodular melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0012055Ciliary body melanoma2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0002861HP:0012054Choroidal melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012060Acral lentiginous melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012058Nodular melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012055Ciliary body melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012059Lentigo maligna melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0012057Superficial spreading melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0011524Iris melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0012059Lentigo maligna melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012057Superficial spreading melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0011524Iris melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
HP:0002861HP:0012054Choroidal melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0012060Acral lentiginous melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0012058Nodular melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0002861HP:0012055Ciliary body melanoma2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002861HP:0002861Melanoma0AKT1 CL E G H207201ORPHA0380391164730
HP:0002861HP:0002861Melanoma0AKT1 CL E G H207201ORPHA0417391164730
HP:0002861HP:0002861Melanoma0BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02555952601593
HP:0002861HP:0002861Melanoma0BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02773952601593
HP:0002861HP:0002861Melanoma0BRAF CL E G H673500ORPHA06801097164757
HP:0002861HP:0002861Melanoma0BRAF CL E G H673500ORPHA06181097164757
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0122071100113705
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0125861100113705
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0122071100113705
HP:0002861HP:0002861Melanoma0BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0125861100113705
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0139121101600185
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0147421101600185
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0139121101600185
HP:0002861HP:0002861Melanoma0BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0147421101600185
HP:0002861HP:0002861Melanoma0BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0346420473605882
HP:0002861HP:0002861Melanoma0BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0377820473605882
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA010621787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA09711787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA09711787600160
HP:0002861HP:0002861Melanoma0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA010621787600160
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA0285116627604373
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA0259416627604373
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0259416627604373
HP:0002861HP:0002861Melanoma0CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0285116627604373
HP:0002861HP:0002861Melanoma0CTSC CL E G H1075678ORPHA01962528602365
HP:0002861HP:0002861Melanoma0CTSC CL E G H1075678ORPHA02372528602365
HP:0002861HP:0002861Melanoma0KLLN CL E G H100144748201ORPHA024837212612105
HP:0002861HP:0002861Melanoma0KLLN CL E G H100144748201ORPHA027037212612105
HP:0002861HP:0002861Melanoma0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA03316407190070
HP:0002861HP:0002861Melanoma0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA03416407190070
HP:0002861HP:0002861Melanoma0MBTPS2 CL E G H51360659AmyoplasiaORPHA023115455300294
HP:0002861HP:0002861Melanoma0MBTPS2 CL E G H51360659AmyoplasiaORPHA024215455300294
HP:0002861HP:0002861Melanoma0MC1R CL E G H415779432ORPHA03766929155555
HP:0002861HP:0002861Melanoma0MC1R CL E G H415779432ORPHA04286929155555
HP:0002861HP:0002861Melanoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA0756973164785
HP:0002861HP:0002861Melanoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA0496973164785
HP:0002861HP:0002861Melanoma0MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA012587230600814
HP:0002861HP:0002861Melanoma0MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA012597230600814
HP:0002861HP:0002861Melanoma0NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA024027652602667
HP:0002861HP:0002861Melanoma0NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA026407652602667
HP:0002861HP:0002861Melanoma0OCA2 CL E G H494879432ORPHA06628101611409
HP:0002861HP:0002861Melanoma0OCA2 CL E G H494879432ORPHA08518101611409
HP:0002861HP:0002861Melanoma0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0392526144610355
HP:0002861HP:0002861Melanoma0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0424526144610355
HP:0002861HP:0002861Melanoma0PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0392526144610355
HP:0002861HP:0002861Melanoma0PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0424526144610355
HP:0002861HP:0002861Melanoma0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA054617068608092
HP:0002861HP:0002861Melanoma0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA061417068608092
HP:0002861HP:0002861Melanoma0PIK3CA CL E G H5290201ORPHA05448975171834
HP:0002861HP:0002861Melanoma0PIK3CA CL E G H5290201ORPHA06138975171834
HP:0002861HP:0002861Melanoma0PTEN CL E G H5728201ORPHA024169588601728
HP:0002861HP:0002861Melanoma0PTEN CL E G H5728201ORPHA022469588601728
HP:0002861HP:0002861Melanoma0PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA022469588601728
HP:0002861HP:0002861Melanoma0PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA024169588601728
HP:0002861HP:0002861Melanoma0PTPN11 CL E G H5781500ORPHA06299644176876
HP:0002861HP:0002861Melanoma0PTPN11 CL E G H5781500ORPHA05659644176876
HP:0002861HP:0002861Melanoma0RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA026119816604040
HP:0002861HP:0002861Melanoma0RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA029289816604040
HP:0002861HP:0002861Melanoma0RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0729817179617
HP:0002861HP:0002861Melanoma0RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0819817179617
HP:0002861HP:0002861Melanoma0RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA013109820602774
HP:0002861HP:0002861Melanoma0RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA014229820602774
HP:0002861HP:0002861Melanoma0RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA011329823602954
HP:0002861HP:0002861Melanoma0RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA012169823602954
HP:0002861HP:0002861Melanoma0RAF1 CL E G H5894500ORPHA06909829164760
HP:0002861HP:0002861Melanoma0RAF1 CL E G H5894500ORPHA06259829164760
HP:0002861HP:0002861Melanoma0RNF43 CL E G H54894157798ORPHA022118505612482
HP:0002861HP:0002861Melanoma0RNF43 CL E G H54894157798ORPHA032218505612482
HP:0002861HP:0002861Melanoma0SDHB CL E G H6390201ORPHA092610681185470
HP:0002861HP:0002861Melanoma0SDHB CL E G H6390201ORPHA082410681185470
HP:0002861HP:0002861Melanoma0SDHC CL E G H6391201ORPHA057510682602413
HP:0002861HP:0002861Melanoma0SDHC CL E G H6391201ORPHA052610682602413
HP:0002861HP:0002861Melanoma0SDHD CL E G H6392201ORPHA050710683602690
HP:0002861HP:0002861Melanoma0SDHD CL E G H6392201ORPHA044210683602690
HP:0002861HP:0002861Melanoma0SEC23B CL E G H10483201ORPHA023610702610512
HP:0002861HP:0002861Melanoma0SEC23B CL E G H10483201ORPHA022210702610512
HP:0002861HP:0002861Melanoma0SLC45A2 CL E G H5115179435ORPHA016216472606202
HP:0002861HP:0002861Melanoma0SLC45A2 CL E G H5115179435ORPHA026716472606202
HP:0002861HP:0002861Melanoma0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA013596770600993
HP:0002861HP:0002861Melanoma0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA014956770600993
HP:0002861HP:0002861Melanoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA0246411998191170
HP:0002861HP:0002861Melanoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA0228011998191170
HP:0002861HP:0002861Melanoma0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0228011998191170
HP:0002861HP:0002861Melanoma0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0246411998191170
HP:0002861HP:0002861Melanoma0TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0228011998191170
HP:0002861HP:0002861Melanoma0TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0246411998191170
HP:0002861HP:0002861Melanoma0TRPV3 CL E G H162514659AmyoplasiaORPHA032918084607066
HP:0002861HP:0002861Melanoma0TRPV3 CL E G H162514659AmyoplasiaORPHA033718084607066
HP:0002861HP:0002861Melanoma0TYR CL E G H729979434ORPHA025912442606933
HP:0002861HP:0002861Melanoma0TYR CL E G H729979434ORPHA035812442606933
HP:0002861HP:0007716Uveal melanoma1AKT1 CL E G H207201ORPHA0417391164730
HP:0002861HP:0012056Cutaneous melanoma1AKT1 CL E G H207201ORPHA0417391164730
HP:0002861HP:0007716Uveal melanoma1AKT1 CL E G H207201ORPHA0380391164730
HP:0002861HP:0012056Cutaneous melanoma1AKT1 CL E G H207201ORPHA0380391164730
HP:0002861HP:0007716Uveal melanoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02773952601593
HP:0002861HP:0012056Cutaneous melanoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02773952601593
HP:0002861HP:0007716Uveal melanoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02555952601593
HP:0002861HP:0012056Cutaneous melanoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA02555952601593
HP:0002861HP:0007716Uveal melanoma1BRAF CL E G H673500ORPHA06801097164757
HP:0002861HP:0012056Cutaneous melanoma1BRAF CL E G H673500ORPHA06801097164757
HP:0002861HP:0007716Uveal melanoma1BRAF CL E G H673500ORPHA06181097164757
HP:0002861HP:0012056Cutaneous melanoma1BRAF CL E G H673500ORPHA06181097164757
HP:0002861HP:0007716Uveal melanoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0125861100113705
HP:0002861HP:0012056Cutaneous melanoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0125861100113705
HP:0002861HP:0007716Uveal melanoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0122071100113705
HP:0002861HP:0012056Cutaneous melanoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0122071100113705
HP:0002861HP:0007716Uveal melanoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0125861100113705
HP:0002861HP:0012056Cutaneous melanoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0125861100113705
HP:0002861HP:0007716Uveal melanoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0122071100113705
HP:0002861HP:0012056Cutaneous melanoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0122071100113705
HP:0002861HP:0007716Uveal melanoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0147421101600185
HP:0002861HP:0012056Cutaneous melanoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0147421101600185
HP:0002861HP:0007716Uveal melanoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0139121101600185
HP:0002861HP:0012056Cutaneous melanoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0139121101600185
HP:0002861HP:0007716Uveal melanoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0147421101600185
HP:0002861HP:0012056Cutaneous melanoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0147421101600185
HP:0002861HP:0007716Uveal melanoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0139121101600185
HP:0002861HP:0012056Cutaneous melanoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0139121101600185
HP:0002861HP:0007716Uveal melanoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0377820473605882
HP:0002861HP:0012056Cutaneous melanoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0377820473605882
HP:0002861HP:0007716Uveal melanoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0346420473605882
HP:0002861HP:0012056Cutaneous melanoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA0346420473605882
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA010621787600160
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA010621787600160
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA09711787600160
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA09711787600160
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA010621787600160
HP:0002861HP:0012056Cutaneous melanoma1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA010621787600160
HP:0002861HP:0007716Uveal melanoma1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA09711787600160
HP:0002861HP:0012056Cutaneous melanoma