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: |
........Superficial spreading melanoma (HP:0012057) |
........Nodular melanoma (HP:0012058) |
........Lentigo maligna melanoma (HP:0012059) |
........Acral lentiginous melanoma (HP:0012060) |
Sister Nodes: |
..Acanthoma (HP:0025432)
|
..Actinic keratosis (HP:0025127)
|
..Adenoma sebaceum (HP:0009720)
|
..Basal cell carcinoma (HP:0002671)
|
..Cutaneous angiolipomas (HP:0006773)
|
..Cutaneous leiomyoma (HP:0007620)
|
..Cutaneous leiomyosarcoma (HP:0006755)
|
..Cutaneous mastocytosis (HP:0200151)
|
..Cutaneous myxoma (HP:0030428)
|
..Eccrine syringofibroadenoma (HP:0031018)
|
..Fibrofolliculoma (HP:0030436)
|
..Frontal cutaneous lipoma (HP:0007541)
|
..Kaposi's sarcoma (HP:0100726)
|
..Keratoacanthoma (HP:0031525)
|
..Lymphocytoma cutis (HP:0031549)
|
..Merkel cell skin cancer (HP:0030447)
|
..Multiple cutaneous leiomyomas (HP:0007437)
|
..Multiple cutaneous malignancies (HP:0007606)
|
..Myxoid subcutaneous tumors (HP:0006769)
|
..Neurofibromas (HP:0001067)
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..Papilloma (HP:0012740)
|
..Peripheral Schwannoma (HP:0009593)
|
..Seborrheic keratosis (HP:0031287)
|
..Skin appendage neoplasm (HP:0012842)
|
..Squamous cell carcinoma (HP:0002860)
|
..Steatocystoma multiplex (HP:0012035)
|
..Subcutaneous lipoma (HP:0001031)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:614327 | Tumor predisposition syndrome | . | | | 184 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | BRAF CL E G H | 673 | 1097 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 276 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | CDK4 CL E G H | 1019 | 1773 | OMIM:609048 | Melanoma, cutaneous malignant, susceptibility to, 3 | . | | | 145 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155601 | Melanoma, cutaneous malignant, susceptibility to, 2 | . | | | 289 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | CDKN2A CL E G H | 1029 | 1787 | OMIM:155755 | Melanoma-Astrocytoma syndrome | . | | | 289 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040284 - Very rare | | | 9 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 113 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:626 | Large congenital melanocytic nevus | HP:0040283 - Occasional | | | 124 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 124 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | MITF CL E G H | 4286 | 7105 | OMIM:614456 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8; CMM8 | | | | 91 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:626 | Large congenital melanocytic nevus | HP:0040283 - Occasional | | | 102 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 102 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040283 - Occasional | | | 121 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:155600 | Melanoma, cutaneous malignant | . | | | 740 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | | HP:0012056 | HP:0012056 | Cutaneous melanoma | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | | HP:0012056 | HP:0012058 | Nodular melanoma | 1 | CL E G H | | | | | | | | | | | HP:0012056 | HP:0012057 | Superficial spreading melanoma | 1 | CL E G H | | | | | | | | | | | HP:0012056 | HP:0012059 | Lentigo maligna melanoma | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | | HP:0012056 | HP:0012060 | Acral lentiginous melanoma | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
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.
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