DiseaseID 3857
黑色素瘤
disease
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.
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Disease: 1Experiment: 6Herb: 2Symptom: 12Target: 24Links: 44
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3857
- Core Entity Id
- 60116
- Source Entity Count
- 1
- Preferred Name
- Melanoma
- Name Cn
- 黑色素瘤
- Name Pinyin
- Hei Se Su Liu
- Name En
- Melanoma
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Finding
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNeoplasmsSkin and Connective Tissue Diseases; Neoplasms
- Do Class
- disease of anatomical entity; disease of cellular proliferationdisease of cellular proliferationgenetic disease
- Hpo Class
- Abnormality of the integumentNeoplasmNeoplasm; Abnormality of the integument
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNeoplasms
- Hpo Class Name
- Abnormality of the integumentNeoplasm
- Do Class Name
- disease of cellular proliferationgenetic disease
- Disease Definition
- Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Melanoma
Role
preferred
Name
Familial Atypical Mole Melanoma Syndrome
Role
preferred
Name
Melanoma, Cutaneous Malignant, Susceptibility To, 1
Role
preferred
Name
Cutaneous Melanoma
Role
preferred
Name
Dysplastic Nevus
Role
preferred
Name
Dysplastic Nevus Syndrome
Role
preferred
Name
Familial Atypical Multiple Mole-Melanoma
Role
preferred
Name
Familial Melanoma
Role
preferred
Name
MELANOMA, CUTANEOUS MALIGNANT, 1
Role
preferred
Name
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
Role
preferred
Name
Melanoma, Cutaneous Malignant 1
Role
preferred
Name
Atypical Mole
Role
alias
Name
Atypical Nevus
Role
alias
Name
B-K MOLE SYNDROME
Role
alias
Name
CMM
Role
alias
Name
CMM1
Role
alias
Name
DNS
Role
alias
Name
DYSPLASTIC NEVUS SYNDROME, HEREDITARY
Role
alias
Name
FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME
Role
alias
Name
FAMMM
Role
alias
Name
MELANOMA, CUTANEOUS MALIGNANT
Role
alias
Name
MELANOMA, FAMILIAL
Role
alias
Name
MELANOMA, MALIGNANT
Role
alias
Name
MLM
Role
alias
Name
Malignant Melanoma
Role
alias
Name
Malignant Melanoma of Skin
Role
alias
Name
Malignant Melanoma of Skin, Unspecified
Role
alias
Name
Skin Cancer (Melanoma)
Role
alias
Name
Skin Melanoma
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001062HP:0002861HP:0012056
Herb
HBDIS000858HBDIS001889HBDIS003602HBDIS004294HBDIS004295HBDIS015286HBDIS019054HBDIS019919
Me Sh
D004416D008545
Omim
613099
Umls
C0013403C0025202C0151779C1835047C2314896
Icd10
C43C43.2C43.3C43.4C43.5C43.7C43.9
Sym Map
SMDE03855SMDE04336SMDE08628SMDE10817
Do Class
DOID:14566DOID:630DOID:7
Dis Ge Net
C0013403C0025202C0151779C0205747C0205748C1835047C2314896C2751295
Orphanet
618
Umls Sty
T033T191
Hpo Class
HP:0001574HP:0002664
Me Sh Class
C04C16C17
Etcm Disease
Melanoma, Cutaneous Malignant 1
Tcmbank Disease
105091178414242280482862531210771547730
Itcmdb Generated
ITX-DISEASE-0C814B24FE95ITX-DISEASE-1CDA57E898F2ITX-DISEASE-B432CF645D52ITX-DISEASE-E7B3B94D1C50
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Melanoma, Cutaneous Malignant 1 Details page
Do Class Name
disease of cellular proliferationgenetic disease
Disease Type
disease
Hpo Class Name
Abnormality of the integumentNeoplasm
Do Disease Class
disease of anatomical entity; disease of cellular proliferationdisease of cellular proliferationgenetic disease
Hpo Disease Class
Abnormality of the integumentNeoplasmNeoplasm; Abnormality of the integument
Umls Disease Type
FindingNeoplastic Process
Basic Information
Disease Name
Melanoma, Cutaneous Malignant 1
Global Category
Cancer diseases;Genetic diseases;Rare diseases
Anatomical Category
Nephrological diseases;Skin diseases
Disease Definition
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.NCI2016_NCI-GLOSS_1602D:A condition that runs in certain families in which at least two members have dysplastic nevi (atypical moles) and have a tendency to develop melanoma.|NCI2016_02D:An autosomal dominant disorder defined by the presence of multiple dysplastic nevi and a history of melanoma in two family members. Patients are at an increased risk for the development of melanoma.|MSH2017_2016_08_12:Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)NCI2016_NCI-GLOSS_1602D:An inherited condition marked by the following: (1) one or more first- or second-degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; (2) many moles, some of which are atypical (asymmetrical, raised, and/or different shades of tan, brown, black, or red) and often of different sizes; and (3) moles that have specific features when examined under a microscope. FAMMM syndrome increases the risk of melanoma and may increase the risk of pancreatic cancer.|NCI2016_02D:An autosomal dominant hereditary neoplastic syndrome characterized by the presence of multiple melanocytic nevi, some of which are atypical, and a family history of melanoma. Patients are at an increased risk of developing melanoma and pancreatic cancer.NCI2016_NICHD_1602D:A malignant neoplasm comprised of melanocytes typically arising in the skin.|NCI2016_NCI-GLOSS_1602D:A form of cancer that begins in melanocytes (cells that make the pigment melanin). It may begin in a mole (skin melanoma), but can also begin in other pigmented tissues, such as in the eye or in the intestines.|NCI2016_CDISC_1602D:A malignant neoplasm composed of melanocytes.|NCI2016_02D:A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.|MSH2017_2016_08_12:A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|MEDLINEPLUS_20151021:<p>Melanoma is the most serious type of <a href='https://www.nlm.nih.gov/medlineplus/skincancer.html'>skin cancer</a>. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or "ugly looking."</p> <p>Thinking of "ABCDE" can help you remember what to watch for:</p> <ul> <li> Asymmetry - the shape of one half does not match the other</li> <li> Border - the edges are ragged, blurred or irregular</li> <li> Color - the color is uneven and may include shades of black, brown and tan</li> <li> Diameter - there is a change in size, usually an increase</li> <li>Evolving - the mole has changed over the past few weeks or months</li> </ul> <p>Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells.</p> <p >NIH: National Cancer Institute</p>|HPO2016_07_04: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). [HPO:probinson]|HPO2016_07_04:The presence of a melanoma of the skin. [HPO:probinson]|CSP2006:malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites; occurring mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo; frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNeoplasmsSkin and Connective Tissue Diseases; Neoplasms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsNeoplasms
Umls Semantic Type Name
FindingNeoplastic Process