{ "id": 4599, "label": "skin neoplasm", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0002531", "properties": { "xrefs": [ "DOID:3165", "EFO:0004198", "ICD9:239.2", "MEDGEN:19993", "MESH:D012878", "NCIT:C3372", "ONCOTREE:SKIN", "SCTID:126488004", "UMLS:C0037286" ], "synonyms": [ "neoplasm of skin", "neoplasm of the skin", "neoplasm of zone of skin", "skin neoplasm", "skin neoplasms", "skin tumor", "skin tumour", "tumor of skin", "tumor of the skin", "tumor of zone of skin", "tumour of skin", "tumour of the skin", "tumour of zone of skin", "zone of skin neoplasm", "zone of skin neoplasm (disease)", "zone of skin tumor", "zone of skin tumour", "skin", "skin benign neoplasm" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma." }, "isLeaf": false, "isRoot": false, "child_count": 17, "parents": [ { "id": 6798, "label": "neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 21214 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14566", "EFO:0000616", "HP:0002664", "ICD10CM:C00-D49", "ICD10CM:C7A-C7A", "ICD10CM:C7B-C7B", "ICD9:140-239", "ICD9:239.8", "ICD9:239.9", "MEDGEN:10294", "MESH:D009369", "NCIT:C3262", "ONCOTREE:OTHER", "SCTID:55342001", "UMLS:C0027651" ], "synonyms": [ "cell process disease", "disease of cellular proliferation", "neoplasia", "neoplasm", "neoplasm (disease)", "neoplastic disease", "neoplastic growth", "tumor", "tumor disease", "tumour", "tumour disease", "other neoplasm" ], "definition": "A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias." }, "child_count": 48, "reference_id": "MONDO:0005070" }, { "id": 6820, "label": "skin disorder", "isLeaf": false, "isRoot": false, "parents": [ 4198 ], "type_id": 0, "properties": { "xrefs": [ "DOID:37", "EFO:0000701", "ICD9:702", "ICD9:702.8", "ICD9:709.8", "MEDGEN:20777", "MESH:D012871", "NANDO:2100281", "NCIT:C3371", "SCTID:95320005", "UMLS:C0037274" ], "synonyms": [ "cutaneous disorder", "disease of zone of skin", "disease or disorder of zone of skin", "disorder of skin", "disorder of zone of skin", "skin diseases and manifestations", "skin disorder", "zone of skin disease", "zone of skin disease or disorder", "dermatosis", "genodermatosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs." }, "child_count": 72, "reference_id": "MONDO:0005093" } ], "children": [ { "id": 3962, "label": "dermoid cyst of skin", "isLeaf": true, "isRoot": false, "parents": [ 4475, 4599 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13691", "GARD:0023011", "MEDGEN:91148", "NCIT:C4632", "SCTID:276729007", "UMLS:C0349502" ], "synonyms": [ "cutaneous dermoid cyst", "cystic skin teratoma", "dermoid cyst of skin", "dermoid cyst of skin (finding)", "dermoid cyst of the skin", "skin dermoid", "skin dermoid cyst", "subcutaneous dermoid cyst", "zone of skin dermoid cyst" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure." }, "child_count": 0, "reference_id": "MONDO:0001778" }, { "id": 4352, "label": "eyelid neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4599, 5315, 20431 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2173", "EFO:1000934", "MEDGEN:41939", "MESH:D005142", "NCIT:C3031", "Orphanet:98580", "SCTID:278697001", "UMLS:C0015424" ], "synonyms": [ "eyelid neoplasm", "eyelid neoplasm (disease)", "eyelid tumor", "eyelid tumour", "neoplasm of eyelid", "neoplasm of the eyelid", "palpebral tumor", "palpebral tumour", "tumor of eyelid", "tumor of the eyelid", "tumour of eyelid", "tumour of the eyelid" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma." }, "child_count": 9, "reference_id": "MONDO:0002235" }, { "id": 4406, "label": "epidermal appendage tumor", "isLeaf": false, "isRoot": false, "parents": [ 4599, 21436 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2433", "ICD9:239.2", "MEDGEN:87527", "NCIT:C4463", "SCTID:126489007", "UMLS:C0345988" ], "synonyms": [ "Epidermal appendage neoplasm", "Epidermal appendage tumour", "adnexal neoplasm of skin", "adnexal neoplasm of the skin", "adnexal tumor of skin", "adnexal tumor of the skin", "adnexal tumour of skin", "adnexal tumour of the skin", "cutaneous adnexal neoplasm", "cutaneous appendage neoplasm", "cutaneous appendage neoplasm (disease)", "cutaneous appendage tumor", "cutaneous appendage tumour", "neoplasm of Epidermal appendage", "neoplasm of cutaneous appendage", "neoplasm of skin appendage", "skin appendage neoplasm", "skin appendage tumor", "tumor of Epidermal appendage", "tumor of cutaneous appendage", "tumor of skin appendage", "tumor of the skin appendage", "tumour of Epidermal appendage", "tumour of cutaneous appendage", "tumour of skin appendage", "tumour of the skin appendage" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." }, "child_count": 10, "reference_id": "MONDO:0002297" }, { "id": 4409, "label": "dermis tumor", "isLeaf": false, "isRoot": false, "parents": [ 4599, 20387 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2438", "GARD:0023112", "MEDGEN:91075", "NCIT:C4475", "UMLS:C0346041" ], "synonyms": [ "dermal neoplasm", "dermal tumor", "dermal tumour", "dermis neoplasm", "dermis neoplasm (disease)", "dermis tumor", "neoplasm of dermis", "neoplasm of the dermis", "tumor of dermis", "tumor of the dermis", "tumour of the dermis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign, intermediate, or malignant neoplasm that arises from the dermis." }, "child_count": 16, "reference_id": "MONDO:0002300" }, { "id": 4907, "label": "skin cancer", "isLeaf": false, "isRoot": false, "parents": [ 3053, 4599 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4159", "ICD10CM:C43-C44", "ICD9:173.8", "ICD9:173.9", "MEDGEN:40101", "NCIT:C2920", "SCTID:372130007", "UMLS:C0007114", "icd11.foundation:1706880799" ], "synonyms": [ "cancer of zone of skin", "malignant neoplasm of skin", "malignant neoplasm of the skin", "malignant neoplasm of zone of skin", "malignant skin neoplasm", "malignant skin tumor", "malignant skin tumour", "malignant tumor of skin", "malignant tumor of the skin", "malignant tumour of skin", "malignant tumour of the skin", "malignant zone of skin neoplasm", "melanoma and non-melanoma skin cancer", "skin cancer", "skin cancer, Including melanoma", "skin neoplasm, malignant", "zone of skin cancer" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A malignant neoplasm involving the zone of skin" }, "child_count": 26, "reference_id": "MONDO:0002898" }, { "id": 5963, "label": "benign dermal neurilemmoma", "isLeaf": true, "isRoot": false, "parents": [ 4599 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7181", "MEDGEN:1810230", "NCIT:C5569", "UMLS:C5686033" ], "synonyms": [ "benign dermal schwannoma", "benign neurilemmoma of skin", "benign neurilemmoma of the skin", "benign schwannoma of skin", "benign schwannoma of the skin", "benign skin neurilemmoma", "benign skin schwannoma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0004134" }, { "id": 6894, "label": "actinic keratosis", "isLeaf": true, "isRoot": false, "parents": [ 3022, 4599 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8866", "EFO:0002496", "HP:0025127", "ICD10CM:L57.0", "ICD9:702.0", "ICD9:702.19", "MEDGEN:9627", "MESH:D055623", "NCIT:C3148", "SCTID:201101007", "UMLS:C0022602", "icd11.foundation:1803982621" ], "synonyms": [ "actinic (solar) keratosis", "actinic keratosis", "actinic keratosis (disease)", "solar keratosis", "Senile hyperkeratosis", "Senile keratosis", "senile keratosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants." }, "child_count": 0, "reference_id": "MONDO:0005173" }, { "id": 8863, "label": "familial Dupuytren contracture", "isLeaf": true, "isRoot": false, "parents": [ 4599, 16673 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:41672", "OMIM:126900", "Orphanet:79142", "SCTID:274142002", "UMLS:C0013312" ], "synonyms": [ "Dupuytren contracture", "Dupuytren contracture 1", "plantar fibromas", "plantar fibromatosis, familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared)." }, "child_count": 0, "reference_id": "MONDO:0007476" }, { "id": 9396, "label": "schwannomatosis", "isLeaf": false, "isRoot": false, "parents": [ 4599, 4612, 19140, 19507, 20303, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3204", "GARD:0004768", "ICD10CM:Q85.03", "ICD9:237.73", "ICDO:9560/1", "MEDGEN:234775", "NCIT:C6557", "OMIMPS:162091", "Orphanet:93921", "UMLS:C1335929" ], "synonyms": [ "NF3", "Neurinomatosis", "Schwannomatosis", "neurilemmomatosis", "neurofibromatosis type 3", "schwannomatosis", "schwannomatosis, NEC", "schwannomatosis, NOS", "congenital cutaneous neurilemmomatosis", "neurilemmomatosis congenital cutaneous", "neurilemmomatosis, congenital cutaneous", "neurinoma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium." }, "child_count": 24, "reference_id": "MONDO:0008075" }, { "id": 9880, "label": "familial multiple discoid fibromas", "isLeaf": true, "isRoot": false, "parents": [ 4599, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008479", "MEDGEN:348201", "MESH:C536847", "OMIM:190340", "Orphanet:538756", "UMLS:C1860850" ], "synonyms": [ "FMDF", "discoid fibromas, familial multiple", "familial multiple trichodiscomas", "hereditary multiple trichodiscomas", "small benign fibrovascular tumor of the dermal part of the hair disk", "small benign fibrovascular tumour of the dermal part of the hair disc", "trichodiscomas, familial multiple" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation." }, "child_count": 0, "reference_id": "MONDO:0008594" }, { "id": 14824, "label": "Maffucci syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4599, 16218, 19142, 19480, 19507, 21247, 21452, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060221", "GARD:0006958", "MEDGEN:7437", "NCIT:C3213", "NORD:1393", "OMIM:614569", "Orphanet:163634", "SCTID:46041001", "UMLS:C0024454", "icd11.foundation:548780091" ], "synonyms": [ "Chondroplasia angiomatosis", "Dyschondroplasia and cavernous hemangioma", "Maffucci syndrome", "Maffucci type enchondromatosis", "Maffucci's anomalad", "chondrodysplasia with hemangioma", "enchondromatosis with hemangiomata", "hemangiomata with Dyschondroplasia", "Dyschondrodysplasia with hemangiomas", "Kast syndrome", "enchondromatosis with multiple cavernous hemangiomas", "hemangiomatosis Chondrodystrophica", "multiple Angiomas and Endochondromas", "multiple enchondromatosis, Maffucci type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas." }, "child_count": 0, "reference_id": "MONDO:0013808" }, { "id": 20558, "label": "hemangiopericytoma of skin", "isLeaf": true, "isRoot": false, "parents": [ 4599, 6821 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:91081", "NCIT:C4492", "SCTID:254796009", "UMLS:C0346084" ], "synonyms": [ "hemangiopericytoma of the skin", "skin hemangiopericytoma", "zone of skin hemangiopericytoma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A hemangiopericytoma that involves the zone of skin." }, "child_count": 0, "reference_id": "MONDO:0021424" }, { "id": 20564, "label": "benign neoplasm of skin", "isLeaf": false, "isRoot": false, "parents": [ 3052, 4599 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:216.8", "ICD9:216.9", "MEDGEN:2197", "NCIT:C2896", "SCTID:92384009", "UMLS:C0004998" ], "synonyms": [ "benign cutaneous neoplasm", "benign cutaneous tumor", "benign cutaneous tumour", "benign neoplasm of the skin", "benign skin neoplasm", "benign skin tumor", "benign skin tumour", "benign tumor of skin", "benign tumor of the skin", "benign tumour of skin", "benign tumour of the skin", "skin neoplasms, benign", "zone of skin benign neoplasm" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign neoplasm that involves the zone of skin." }, "child_count": 24, "reference_id": "MONDO:0021440" }, { "id": 20680, "label": "melanocytic skin neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4599, 20380 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:138096", "NCIT:C7161", "UMLS:C0349501" ], "synonyms": [ "cutaneous melanocytic neoplasm", "melanocytic neoplasm of skin", "melanocytic neoplasm of zone of skin", "melanocytic skin neoplasm", "zone of skin melanocytic neoplasm" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A melanocytic neoplasm that involves the zone of skin." }, "child_count": 4, "reference_id": "MONDO:0021583" }, { "id": 20690, "label": "epithelial skin neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4599, 7265 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:91063", "NCIT:C7342", "UMLS:C0345976" ], "synonyms": [ "epithelial skin neoplasm", "epithelial skin tumor", "epithelial skin tumour", "skin epithelium neoplasm", "skin epithelium tumor", "skin epithelium tumour", "zone of skin epithelial neoplasm" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A epithelial neoplasm that involves the zone of skin." }, "child_count": 10, "reference_id": "MONDO:0021634" }, { "id": 20810, "label": "calcifying epithelial odontogenic tumor", "isLeaf": true, "isRoot": false, "parents": [ 4599, 20417 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027904", "ICDO:9340/0", "MEDGEN:87266", "MESH:C537961", "NCIT:C54301", "UMLS:C0334574" ], "synonyms": [ "Pindborg tumor", "Pindborg tumour", "calcifying epithelial odontogenic tumor", "CEOT" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases." }, "child_count": 0, "reference_id": "MONDO:0022057" }, { "id": 23989, "label": "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4599, 18819, 18954, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111063", "GARD:0010879", "MEDGEN:360297", "NCIT:C131851", "Orphanet:306661", "UMLS:C1876187" ], "synonyms": [ "HHS", "HFTC", "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome", "hypercalcemic tumoral calcinosis", "hyperphosphatemic familial tumoral calcinosis", "tumoral calcinosis, hyperphosphatemic, familial, 1" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0100251" } ], "roots": [ { "id": 6798, "label": "neoplasm" }, { "id": 6820, "label": "skin disorder" } ] }