{ "id": 6801, "label": "melanocytic nevus", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005073", "properties": { "xrefs": [ "EFO:0009675", "MEDGEN:14364", "MESH:D009506", "NCIT:C7570", "SCTID:400096001", "UMLS:C0027962", "Wikipedia:Nevus" ], "synonyms": [ "melanocytic Nevus", "melanotic Nevus", "mole", "mole of skin", "nevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A neoplasm composed of melanocytes that usually appears as a dark spot on the skin." }, "isLeaf": false, "isRoot": false, "child_count": 28, "parents": [ { "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" } ], "children": [ { "id": 7731, "label": "conjunctival nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801, 7676 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050906", "EFO:1000205", "GARD:0024317", "MEDGEN:83422", "NCIT:C4551", "SCTID:255006004", "UMLS:C0346363" ], "synonyms": [ "Nevus of conjunctiva", "Nevus of the conjunctiva", "conjunctival nevus" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A benign melanocytic neoplasm that arises from the conjunctiva." }, "child_count": 0, "reference_id": "MONDO:0006172" }, { "id": 8147, "label": "blue nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000841", "ICDO:8780/0", "MEDGEN:104930", "MESH:D018329", "MedDRA:10062788", "NCIT:C3803", "SCTID:254806009", "UMLS:C0206736" ], "synonyms": [ "blue Nevus of skin", "blue Nevus of the skin", "blue nevus", "blue skin Nevus", "Jadassohn-TiC(che nevus", "Jadassohn-TiC(che syndrome", "Jadassohn-Tièche nevus", "Jadassohn-Tièche syndrome", "Tièche-Jadassohn nevus", "benign mesenchymal melanoma", "blue neuronevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative." }, "child_count": 0, "reference_id": "MONDO:0006680" }, { "id": 8228, "label": "halo nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000958", "ICD9:709.09", "ICDO:8723/0", "MEDGEN:141636", "MESH:D055882", "MedDRA:10062794", "NCIT:C7602", "SCTID:398028009", "UMLS:C0474824" ], "synonyms": [ "halo nevi", "leukoderma acquisitum Centrifugum of Sutton" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign melanocytic nevus with a halo appearance." }, "child_count": 0, "reference_id": "MONDO:0006778" }, { "id": 8261, "label": "intradermal nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000995", "ICDO:8750/0", "MEDGEN:61670", "MESH:D018330", "MedDRA:10058537", "NCIT:C3804", "SCTID:302838006", "UMLS:C0206737" ], "synonyms": [ "dermal Nevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction." }, "child_count": 0, "reference_id": "MONDO:0006813" }, { "id": 8342, "label": "pigmented spindle cell nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:105378", "MESH:D018331", "NCIT:C4751", "SCTID:254812004", "UMLS:C0474967" ], "synonyms": [ "spindle cell Nevus of Reed" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma." }, "child_count": 0, "reference_id": "MONDO:0006905" }, { "id": 9411, "label": "nevus, epidermal", "isLeaf": false, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111162", "GARD:0024601", "MEDGEN:83106", "MESH:C580062", "NCIT:C4088", "OMIM:162900", "UMLS:C0334082" ], "synonyms": [ "Epidermal Nevus", "epidermal nevus, somatic", "nevus sebaceous or woolly hair nevus, somatic", "nevus sebaceous or wooly hair nevus, somatic", "nevus, epidermal", "nevus, epidermal, somatic", "Nevus sebaceous", "Nevus, Keratinocytic, nonepidermolytic", "Nevus, woolly hair", "Nevus, wooly hair" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed." }, "child_count": 2, "reference_id": "MONDO:0008093" }, { "id": 10799, "label": "neurocutaneous melanocytosis", "isLeaf": true, "isRoot": false, "parents": [ 3049, 6801, 23107, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0007186", "MEDGEN:154259", "MESH:C537387", "NANDO:2200827", "NCIT:C175215", "OMIM:249400", "Orphanet:2481", "UMLS:C0544862", "icd11.foundation:403221860" ], "synonyms": [ "NCM", "neurocutaneous melanosis", "neurocutaneous melanosis, somatic", "NCMS", "Neuromelanosis", "melanosis, neurocutaneous", "neurocutaneous melanosis syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." }, "child_count": 0, "reference_id": "MONDO:0009578" }, { "id": 10965, "label": "neutrophil actin dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027357", "MEDGEN:338036", "MESH:C564942", "NCIT:C3694", "OMIM:257150", "Orphanet:625", "UMLS:C1850380" ], "synonyms": [ "Atypical Nevus", "Clark Nevus", "Clark's Nevus", "Nevus with architectural disorder", "Nevus with architectural disorder and cytologic atypia of melanocytes", "dysplastic Nevus", "dysplastic nevi", "dysplastic nevus", "lentiginous Nevus", "neutrophil actin dysfunction", "NAD" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma." }, "child_count": 0, "reference_id": "MONDO:0009755" }, { "id": 11768, "label": "CHILD syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3036, 6801, 16089, 16607, 17598, 19104, 19476, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111822", "GARD:0006039", "ICD9:759.89", "MEDGEN:82697", "MESH:C562515", "NANDO:1200629", "NANDO:2200998", "NANDO:2201358", "NORD:1284", "OMIM:308050", "Orphanet:139", "SCTID:17608003", "UMLS:C0265267" ], "synonyms": [ "CHILD syndrome", "CHILD syndrome, X-linked dominant", "Ichthyosis, CHILD Syndrome", "child nevus", "child syndrome", "congenital hemidysplasia with ichthyosiform erythroderma and limb defects", "congenital hemidysplasia with ichthyosiform nevus and limb defects", "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs", "ichthyosis, child syndrome" ], "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" } ], "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." }, "child_count": 0, "reference_id": "MONDO:0010621" }, { "id": 12600, "label": "Becker nevus syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6801, 19507, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005901", "MEDGEN:347608", "MESH:C565735", "OMIM:604919", "Orphanet:64755", "UMLS:C1858042" ], "synonyms": [ "Becker nevus syndrome", "pigmentary hairy epidermal nevus", "hairy epidermal nevus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Becker nevus syndrome is characterized by the presence of a Becker nevus in association with underdevelopment (hypoplasia) of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia; skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual." }, "child_count": 3, "reference_id": "MONDO:0011500" }, { "id": 14076, "label": "CLOVES syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6801, 19144, 23867, 29234 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080351", "GARD:0010939", "MEDGEN:442876", "MESH:C567863", "NCIT:C177122", "NORD:979", "OMIM:612918", "Orphanet:140944", "SCTID:719475006", "UMLS:C2752042" ], "synonyms": [ "CLOVE syndrome, somatic", "CLOVES syndrome", "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome", "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome", "CLOVE syndrome", "congenital lipomatous overgrowth - vascular malformation - epidermal nevi", "congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities", "congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, Epidermal nevi, and Skeletal anomaly." }, "child_count": 0, "reference_id": "MONDO:0013038" }, { "id": 15855, "label": "nevus comedonicus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013073", "MEDGEN:75592", "NCIT:C3946", "OMIM:617025", "Orphanet:64754", "SCTID:35962006", "UMLS:C0265987" ], "synonyms": [ "Nevus comedonicus", "acne Nevus", "acneiform Nevus", "comedo Nevus", "nevus comedonicus, somatic", "pilosebaceous nevoid disorder", "NC", "NEVUS comedonicus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood." }, "child_count": 0, "reference_id": "MONDO:0014873" }, { "id": 16174, "label": "segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801, 17900, 19480, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019881", "MEDGEN:1637405", "Orphanet:137608", "SCTID:763867001", "UMLS:C4706610" ], "synonyms": [ "SOLAMEN syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer." }, "child_count": 0, "reference_id": "MONDO:0015293" }, { "id": 16204, "label": "congenital panfollicular nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019912", "HP:0025471", "MEDGEN:1381094", "Orphanet:139414", "UMLS:C4476799" ], "synonyms": [ "congenital panfollicular nevus", "congenital panfollicular nevus (disease)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed." }, "child_count": 0, "reference_id": "MONDO:0015341" }, { "id": 16421, "label": "porokeratotic eccrine ostial and dermal duct nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801, 21298, 21437 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020070", "MEDGEN:96880", "NCIT:C4740", "Orphanet:166286", "SCTID:239118007", "UMLS:C0473579" ], "synonyms": [ "Porokeratotic eccrine duct and hair follicle Nevus", "Porokeratotic eccrine nevus", "comedo nevus of the palm", "linear eccrine Nevus with comedones" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb." }, "child_count": 0, "reference_id": "MONDO:0015635" }, { "id": 16507, "label": "hereditary mucosal leukokeratosis", "isLeaf": false, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050448", "GARD:0008501", "ICD9:528.6", "MEDGEN:328433", "MESH:D053529", "NCIT:C84760", "OMIMPS:193900", "Orphanet:171723", "SCTID:389203001", "UMLS:C1721005" ], "synonyms": [ "White sponge nevus of Cannon", "hereditary mucosal leukokeratosis", "white sponge nevus", "white sponge nevus of Cannon" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or grayish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa." }, "child_count": 4, "reference_id": "MONDO:0015748" }, { "id": 17257, "label": "linear verrucous nevus syndrome", "isLeaf": false, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003259", "MEDGEN:1806291", "Orphanet:2611", "UMLS:C5679838" ], "synonyms": [ "linear hamartoma syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0016831" }, { "id": 17396, "label": "nevus of Ota", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000396", "GARD:0020901", "ICD9:224.0", "MEDGEN:14363", "MESH:D009507", "MedDRA:10051713", "NCIT:C7583", "Orphanet:263425", "SCTID:414929001", "UMLS:C0027961" ], "synonyms": [ "Nevus fusculoceruleus ophthalmomaxillaris", "Ota's Nevus", "oculocutaneous melanocytic Nevus", "oculodermal melanocytosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus." }, "child_count": 0, "reference_id": "MONDO:0016984" }, { "id": 17397, "label": "nevus of Ito", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "EFO:1000395", "GARD:0010830", "NCIT:C7582", "Orphanet:263432" ], "synonyms": [ "Ito's Nevus", "nevi of Ito", "nevus fuscocaeruleus acromiodeltoideus", "hypomelanosis of Ito" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter." }, "child_count": 0, "reference_id": "MONDO:0016985" }, { "id": 17636, "label": "phakomatosis pigmentokeratotica", "isLeaf": true, "isRoot": false, "parents": [ 3049, 6801, 19507, 23107, 23867, 24270 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004311", "MEDGEN:419860", "MESH:C537893", "Orphanet:2874", "SCTID:723455009", "UMLS:C2931658", "icd11.foundation:960559196" ], "synonyms": [ "Phacomatosis pigmentokeratotica", "organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies." }, "child_count": 0, "reference_id": "MONDO:0017317" }, { "id": 18008, "label": "PENS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013447", "MEDGEN:1654469", "Orphanet:313936", "UMLS:C4749916" ], "synonyms": [ "papular epidermal nevi with skyline basal cell layers syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported." }, "child_count": 0, "reference_id": "MONDO:0017785" }, { "id": 18379, "label": "Angora hair nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021590", "MEDGEN:1667925", "Orphanet:370039", "UMLS:C4751601" ], "synonyms": [ "Schauder syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018258" }, { "id": 18380, "label": "didymosis aplasticosebacea", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021591", "MEDGEN:1650408", "Orphanet:370046", "UMLS:C4751600" ], "synonyms": [ "aplasia cutis congenita-nevus sebaceus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018259" }, { "id": 18381, "label": "scalp syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021592", "MEDGEN:1665599", "Orphanet:370052", "UMLS:C4751599" ], "synonyms": [ "sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome", "sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018260" }, { "id": 18382, "label": "Nevada syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021593", "MEDGEN:1667994", "Orphanet:370059", "UMLS:C4751431" ], "synonyms": [ "Nevus epidermicus verrucosus with angiodysplasia and aneurysms" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period." }, "child_count": 0, "reference_id": "MONDO:0018261" }, { "id": 19759, "label": "palpebral nevus", "isLeaf": false, "isRoot": false, "parents": [ 6801, 19758 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:65985", "NCIT:C3880", "Orphanet:98588", "SCTID:231827008", "UMLS:C0239460" ], "synonyms": [ "eyelid nevus", "melanocytic nevus of skin of eyelid", "nevus of eyelid", "nevus of the eyelid", "skin of eyelid melanocytic nevus" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A melanocytic nevus that involves the skin of eyelid." }, "child_count": 2, "reference_id": "MONDO:0020179" }, { "id": 23445, "label": "large congenital melanocytic nevus", "isLeaf": true, "isRoot": false, "parents": [ 6801, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111359", "GARD:0002469", "ICDO:8761/1", "MEDGEN:330752", "MedDRA:10072036", "NCIT:C3944", "NCIT:C4234", "NORD:1184", "OMIM:137550", "ONCOTREE:SKCN", "Orphanet:626", "SCTID:254815002", "SCTID:398696001", "UMLS:C1842036", "icd11.foundation:618273329" ], "synonyms": [ "Giant Congenital Melanocytic Nevus", "bathing trunk nevus", "congenital melanocytic nevi", "congenital melanocytic nevus", "congenital melanocytic nevus of skin", "congenital melanocytic nevus of the skin", "congenital nevus of skin", "congenital nevus of the skin", "congenital pigmented melanocytic Nevus", "congenital pigmented nevus of skin", "congenital pigmented nevus of the skin", "congenital pigmented skin nevus", "congenital skin nevus", "giant congenital nevus", "giant pigmented hairy nevus", "giant pigmented nevus of skin", "giant pigmented nevus of the skin", "large congenital melanocytic nevus", "melanocytic nevus syndrome, congenital, somatic", "spitz nevus or nevus spilus, somatic", "CMNS", "GPHN", "congenital giant pigmented nevus", "congenital hairy nevus", "congenital nevus", "giant congenital melanocytic nevus", "giant congenital pigmented Nevus", "giant hairy nevus", "giant pigmented nevus", "melanocytic nevus syndrome, congenital", "nevus spilus", "pigmented moles", "spitz nevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." }, "child_count": 0, "reference_id": "MONDO:0044792" }, { "id": 23447, "label": "benign melanocytic skin nevus", "isLeaf": false, "isRoot": false, "parents": [ 6801 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:264151", "NCIT:C7571", "UMLS:C1456781" ], "synonyms": [ "benign melanocytic nevus", "benign melanocytic nevus of skin", "benign melanocytic nevus of the skin", "benign melanocytic skin nevus", "benign mole", "benign nevus of skin", "benign nevus of the skin", "benign skin nevus" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus." }, "child_count": 2, "reference_id": "MONDO:0044794" } ], "roots": [ { "id": 20564, "label": "benign neoplasm of skin" }, { "id": 20680, "label": "melanocytic skin neoplasm" } ] }