Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Melanoma (HP:0002861)help
Parent Node:
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Neoplasm of the skin (HP:0008069)help
..Starting node
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Cutaneous melanoma (HP:0012056)help
Term ID: 12056
Name: Cutaneous melanoma
Synonym:
Definition: The presence of a melanoma of the skin.
Comments:
Reference: HP:0012056
Genes and Diseases:
 
       Child Nodes:
........expandSuperficial spreading melanoma (HP:0012057) help
........expandNodular melanoma (HP:0012058) help
........expandLentigo maligna melanoma (HP:0012059) help
........expandAcral lentiginous melanoma (HP:0012060) help

 Sister Nodes: 
..expandAcanthoma (HP:0025432) help
..expandActinic keratosis (HP:0025127) help
..expandAdenoma sebaceum (HP:0009720) help
..expandBasal cell carcinoma (HP:0002671) help
..expandCutaneous angiolipomas (HP:0006773) help
..expandCutaneous leiomyoma (HP:0007620) help
..expandCutaneous leiomyosarcoma (HP:0006755) help
..expandCutaneous mastocytosis (HP:0200151) help
..expandCutaneous myxoma (HP:0030428) help
..expandEccrine syringofibroadenoma (HP:0031018) help
..expandFibrofolliculoma (HP:0030436) help
..expandFrontal cutaneous lipoma (HP:0007541) help
..expandKaposi's sarcoma (HP:0100726) help
..expandKeratoacanthoma (HP:0031525) help
..expandLymphocytoma cutis (HP:0031549) help
..expandMerkel cell skin cancer (HP:0030447) help
..expandMultiple cutaneous leiomyomas (HP:0007437) help
..expandMultiple cutaneous malignancies (HP:0007606) help
..expandMyxoid subcutaneous tumors (HP:0006769) help
..expandNeurofibromas (HP:0001067) help
..expandPapilloma (HP:0012740) help
..expandPeripheral Schwannoma (HP:0009593) help
..expandSeborrheic keratosis (HP:0031287) help
..expandSkin appendage neoplasm (HP:0012842) help
..expandSquamous cell carcinoma (HP:0002860) help
..expandSteatocystoma multiplex (HP:0012035) help
..expandSubcutaneous lipoma (HP:0001031) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012056HP:0012056Cutaneous melanoma0BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11683950603089
HP:0012056HP:0012056Cutaneous melanoma0BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11514950603089
HP:0012056HP:0012056Cutaneous melanoma0CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM110621787600160
HP:0012056HP:0012056Cutaneous melanoma0CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM19711787600160
HP:0012056HP:0012056Cutaneous melanoma0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0012056HP:0012056Cutaneous melanoma0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0012056HP:0012056Cutaneous melanoma0HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14675173190020
HP:0012056HP:0012056Cutaneous melanoma0HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14115173190020
HP:0012056HP:0012056Cutaneous melanoma0NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12127989164790
HP:0012056HP:0012056Cutaneous melanoma0NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12267989164790
HP:0012056HP:0012056Cutaneous melanoma0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0012056HP:0012056Cutaneous melanoma0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0012056HP:0012056Cutaneous melanoma0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0012056HP:0012056Cutaneous melanoma0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0012056HP:0012059Lentigo maligna melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11514950603089
HP:0012056HP:0012057Superficial spreading melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11514950603089
HP:0012056HP:0012060Acral lentiginous melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11683950603089
HP:0012056HP:0012058Nodular melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11683950603089
HP:0012056HP:0012058Nodular melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11514950603089
HP:0012056HP:0012060Acral lentiginous melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11514950603089
HP:0012056HP:0012059Lentigo maligna melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11683950603089
HP:0012056HP:0012057Superficial spreading melanoma1BAP1 CL E G H8314614327Tumor susceptibility linked to germline BAP1 mutations614327C3280492OMIM11683950603089
HP:0012056HP:0012057Superficial spreading melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM19711787600160
HP:0012056HP:0012059Lentigo maligna melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM19711787600160
HP:0012056HP:0012058Nodular melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM110621787600160
HP:0012056HP:0012060Acral lentiginous melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM110621787600160
HP:0012056HP:0012058Nodular melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM19711787600160
HP:0012056HP:0012060Acral lentiginous melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM19711787600160
HP:0012056HP:0012057Superficial spreading melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM110621787600160
HP:0012056HP:0012059Lentigo maligna melanoma1CDKN2A CL E G H1029155755Melanoma astrocytoma syndrome155755C1835042OMIM110621787600160
HP:0012056HP:0012060Acral lentiginous melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0012056HP:0012058Nodular melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0012056HP:0012059Lentigo maligna melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0012056HP:0012057Superficial spreading melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0012056HP:0012059Lentigo maligna melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0012056HP:0012057Superficial spreading melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0012056HP:0012060Acral lentiginous melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0012056HP:0012058Nodular melanoma1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0012056HP:0012057Superficial spreading melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14115173190020
HP:0012056HP:0012059Lentigo maligna melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14115173190020
HP:0012056HP:0012058Nodular melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14675173190020
HP:0012056HP:0012060Acral lentiginous melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14675173190020
HP:0012056HP:0012060Acral lentiginous melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14115173190020
HP:0012056HP:0012058Nodular melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14115173190020
HP:0012056HP:0012057Superficial spreading melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14675173190020
HP:0012056HP:0012059Lentigo maligna melanoma1HRAS CL E G H3265137550Congenital giant melanocytic nevus137550C1842036OMIM14675173190020
HP:0012056HP:0012060Acral lentiginous melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12127989164790
HP:0012056HP:0012058Nodular melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12127989164790
HP:0012056HP:0012059Lentigo maligna melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12267989164790
HP:0012056HP:0012057Superficial spreading melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12267989164790
HP:0012056HP:0012059Lentigo maligna melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12127989164790
HP:0012056HP:0012057Superficial spreading melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12127989164790
HP:0012056HP:0012060Acral lentiginous melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12267989164790
HP:0012056HP:0012058Nodular melanoma1NRAS CL E G H4893137550Congenital giant melanocytic nevus137550C1842036OMIM12267989164790
HP:0012056HP:0012059Lentigo maligna melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0012056HP:0012057Superficial spreading melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0012056HP:0012058Nodular melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0012056HP:0012060Acral lentiginous melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0012056HP:0012058Nodular melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0012056HP:0012060Acral lentiginous melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0012056HP:0012059Lentigo maligna melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0012056HP:0012057Superficial spreading melanoma1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0012056HP:0012060Acral lentiginous melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0012056HP:0012058Nodular melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0012056HP:0012059Lentigo maligna melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0012056HP:0012057Superficial spreading melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0012056HP:0012059Lentigo maligna melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0012056HP:0012057Superficial spreading melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0012056HP:0012060Acral lentiginous melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0012056HP:0012058Nodular melanoma1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012056HP:0012056Cutaneous melanoma0MC1R CL E G H4157626ORPHA03766929155555
HP:0012056HP:0012056Cutaneous melanoma0MC1R CL E G H4157626ORPHA04286929155555
HP:0012056HP:0012056Cutaneous melanoma0NRAS CL E G H4893626ORPHA02267989164790
HP:0012056HP:0012056Cutaneous melanoma0NRAS CL E G H4893626ORPHA02127989164790
HP:0012056HP:0012060Acral lentiginous melanoma1MC1R CL E G H4157626ORPHA03766929155555
HP:0012056HP:0012058Nodular melanoma1MC1R CL E G H4157626ORPHA03766929155555
HP:0012056HP:0012059Lentigo maligna melanoma1MC1R CL E G H4157626ORPHA04286929155555
HP:0012056HP:0012057Superficial spreading melanoma1MC1R CL E G H4157626ORPHA04286929155555
HP:0012056HP:0012059Lentigo maligna melanoma1MC1R CL E G H4157626ORPHA03766929155555
HP:0012056HP:0012057Superficial spreading melanoma1MC1R CL E G H4157626ORPHA03766929155555
HP:0012056HP:0012060Acral lentiginous melanoma1MC1R CL E G H4157626ORPHA04286929155555
HP:0012056HP:0012058Nodular melanoma1MC1R CL E G H4157626ORPHA04286929155555
HP:0012056HP:0012059Lentigo maligna melanoma1NRAS CL E G H4893626ORPHA02127989164790
HP:0012056HP:0012057Superficial spreading melanoma1NRAS CL E G H4893626ORPHA02127989164790
HP:0012056HP:0012060Acral lentiginous melanoma1NRAS CL E G H4893626ORPHA02267989164790
HP:0012056HP:0012058Nodular melanoma1NRAS CL E G H4893626ORPHA02267989164790
HP:0012056HP:0012060Acral lentiginous melanoma1NRAS CL E G H4893626ORPHA02127989164790
HP:0012056HP:0012058Nodular melanoma1NRAS CL E G H4893626ORPHA02127989164790
HP:0012056HP:0012059Lentigo maligna melanoma1NRAS CL E G H4893626ORPHA02267989164790
HP:0012056HP:0012057Superficial spreading melanoma1NRAS CL E G H4893626ORPHA02267989164790


Genes (9) :BAP1 CDKN2A ERCC3 HRAS MC1R NRAS POLH WRN XPC

Diseases (8) :614327 155755 610651 137550 626 278750 278720 902
 

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