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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012056HP:0012056Cutaneous melanoma0BAP1 CL E G H8314950OMIM:614327Tumor predisposition syndrome.184
HP:0012056HP:0012056Cutaneous melanoma0BRAF CL E G H6731097OMIM:155600Melanoma, cutaneous malignant.276
HP:0012056HP:0012056Cutaneous melanoma0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0012056HP:0012056Cutaneous melanoma0CDK4 CL E G H10191773OMIM:609048Melanoma, cutaneous malignant, susceptibility to, 3.145
HP:0012056HP:0012056Cutaneous melanoma0CDKN2A CL E G H10291787OMIM:155601Melanoma, cutaneous malignant, susceptibility to, 2.289
HP:0012056HP:0012056Cutaneous melanoma0CDKN2A CL E G H10291787OMIM:155755Melanoma-Astrocytoma syndrome.289
HP:0012056HP:0012056Cutaneous melanoma0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0012056HP:0012056Cutaneous melanoma0CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040284 - Very rare9
HP:0012056HP:0012056Cutaneous melanoma0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0012056HP:0012056Cutaneous melanoma0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0012056HP:0012056Cutaneous melanoma0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0012056HP:0012056Cutaneous melanoma0MC1R CL E G H41576929ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional124
HP:0012056HP:0012056Cutaneous melanoma0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional124
HP:0012056HP:0012056Cutaneous melanoma0MITF CL E G H42867105OMIM:614456MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM891
HP:0012056HP:0012056Cutaneous melanoma0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0012056HP:0012056Cutaneous melanoma0NRAS CL E G H48937989ORPHA:626Large congenital melanocytic nevusHP:0040283 - Occasional102
HP:0012056HP:0012056Cutaneous melanoma0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0012056HP:0012056Cutaneous melanoma0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040283 - Occasional121
HP:0012056HP:0012056Cutaneous melanoma0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0012056HP:0012056Cutaneous melanoma0STK11 CL E G H679411389OMIM:155600Melanoma, cutaneous malignant.740
HP:0012056HP:0012056Cutaneous melanoma0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0012056HP:0012056Cutaneous melanoma0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0012056HP:0012058Nodular melanoma1 CL E G H
HP:0012056HP:0012057Superficial spreading melanoma1 CL E G H
HP:0012056HP:0012059Lentigo maligna melanoma1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0012056HP:0012060Acral lentiginous melanoma1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310


Genes (17) :BAP1 BRAF CDK4 CDKN2A COL7A1 CXCR4 ERCC3 HRAS MC1R MITF MMP1 NRAS OCA2 POLH STK11 WRN XPC

Diseases (17) :OMIM:614327 OMIM:155600 OMIM:613706 OMIM:609048 OMIM:155601 OMIM:155755 ORPHA:79408 ORPHA:51636 OMIM:610651 OMIM:137550 ORPHA:2874 ORPHA:626 ORPHA:79432 OMIM:614456 OMIM:278750 ORPHA:902 OMIM:278720
 

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