| Disease Browser
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Parent Node:
 Diseases (C) | Parent Node:
Melanoma, Cutaneous Malignant (C562393) | Parent Node:
Skin Neoplasms (D012878) | ..Starting node
.. MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
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Child Nodes:
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Sister Nodes: | ..Abdominal chemodectomas with cutaneous angiolipomas (C535552)
| ..Acanthoma (D049309)
| ..Bazex-Dupre-Christol syndrome (C537663)
| ..Becker Nevus Syndrome (C565735)
| ..Blue rubber bleb nevus syndrome (C536240)
| ..Calcifying Epithelial Odontogenic Tumor (C537961)
| ..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
| ..Collagenoma, Familial Cutaneous (C562925)
| ..Davenport Donlan syndrome (C535988)
| ..Dermatopathia pigmentosa reticularis (C535374)
| ..Familial cylindromatosis (C536611)
| ..Familial multiple trichodiscomas (C536847)
| ..Fanconi like syndrome (C536855)
| ..Giant pigmented hairy nevus (C536819)
| ..Hamartoma, Precalcaneal Congenital Fibrolipomatous (C565226)
| ..Histiocytosis, Progressive Mucinous (C564186)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4 (OMIM:608035)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 (OMIM:613099)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7 (OMIM:612263)
| ..MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
| ..Nevus, Epidermal (C562736)
| ..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
| ..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
| ..Papillomatosis, Familial Cutaneous (C566832)
| ..Phacomatosis pigmentokeratotica (C537893)
| ..Reactive angioendotheliomatosis (C535293)
| ..Reed's syndrome (C535516)
| ..Rombo syndrome (C535870)
| ..Schwannomatosis (C536641)
| ..Sclerotylosis (C537526)
| ..Sebaceous Gland Neoplasms (D012626)  2
| ..Sweat Gland Neoplasms (D013544)
| ..Trichoepithelioma, Multiple Familial, 2 (C567418)
| ..Trichoepitheliomas, Multiple Desmoplastic (C566034)
| ..Trichofolliculoma (C536553)
| ..Tufted angioma (C536924)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 6919 |
| Name: | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:C562393|MESH:D012878 |
| TreeNumbers: | C04.557.465.625.650.510/C562393/613099 |C04.557.580.625.650.510/C562393/613099 |C04.557.665.510/C562393/613099 |C04.588.805/613099 |C17.800.882/613099 |
| Synonyms: | CMM5 |
| Slim Mappings: | Cancer|Skin disease |
| Reference: |
MedGen: 613099
MeSH: 613099
OMIM: 613099;
Genes: MC1R; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) | 4157 | MC1R | risk factor | 1805006 | RCV000015380; | N | MedGen:C2751295,OMIM:613099 | 16 | 89985918 | 89985918 | NM_002386.3:c.252C>A | NP_002377.4:p.Asp84Glu | NC_000016.9:g.89985918C>A | OMIM Allelic Variant:155555.0003 | C2751295 613099 Cutaneous malignant melanoma 5 | | |
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