{ "id": 19144, "label": "subcutaneous tissue disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019296", "properties": { "xrefs": [ "MEDGEN:712397", "Orphanet:79382", "UMLS:C1290008" ], "synonyms": [ "disease of superficial fascia", "disease or disorder of superficial fascia", "disorder of superficial fascia", "superficial fascia disease", "superficial fascia disease or disorder" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease involving the superficial fascia." }, "isLeaf": false, "isRoot": false, "child_count": 19, "parents": [ { "id": 4198, "label": "integumentary system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:16", "EFO:0010285", "MEDGEN:712400", "SCTID:128598002", "UMLS:C1290011" ], "synonyms": [ "disease of integumental system", "disease or disorder of integumental system", "disorder of integumental system", "integumental system disease", "integumental system disease or disorder", "integumentary disease", "disorder of integument" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease involving the integumental system." }, "child_count": 36, "reference_id": "MONDO:0002051" } ], "children": [ { "id": 6009, "label": "nodular fasciitis", "isLeaf": false, "isRoot": false, "parents": [ 6588, 7762, 7941, 19144 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7327", "GARD:0021959", "ICD10CM:M72.4", "ICD9:728.79", "MEDGEN:96076", "NCIT:C3827", "Orphanet:477742", "SCTID:400138001", "UMLS:C0410005", "icd11.foundation:789101380" ], "synonyms": [ "nodular fasciitis", "pseudosarcomatous fasciitis", "pseudosarcomatous fibromatosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity." }, "child_count": 8, "reference_id": "MONDO:0004187" }, { "id": 8040, "label": "hemangioma of subcutaneous tissue", "isLeaf": true, "isRoot": false, "parents": [ 3052, 7994, 19144 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13081", "GARD:0024438", "MEDGEN:146343", "NCIT:C8540", "SCTID:93473009", "UMLS:C0685200" ], "synonyms": [ "angioma of subcutaneous tissue", "angioma of the subcutaneous tissue", "hemangioma of subcutaneous tissue", "hemangioma of superficial fascia", "hemangioma of the subcutaneous tissue", "subcutaneous angioma", "subcutaneous hemangioma", "subcutaneous tissue angioma", "subcutaneous tissue hemangioma", "superficial fascia hemangioma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A hemangioma arising from the subcutaneous soft tissues." }, "child_count": 0, "reference_id": "MONDO:0006557" }, { "id": 8485, "label": "adiposis dolorosa", "isLeaf": true, "isRoot": false, "parents": [ 3052, 8054, 19144 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3928", "EFO:1000667", "GARD:0005750", "ICD9:272.8", "MEDGEN:1757", "MESH:D000274", "MedDRA:10001294", "NCIT:C84540", "NORD:1046", "OMIM:103200", "Orphanet:36397", "SCTID:71404003", "UMLS:C0001529", "Wikipedia:Adiposis_dolorosa" ], "synonyms": [ "Adiposalgia", "Dercum disease", "Dercum's Disease", "Dercum's disease", "Neurolipomatosis", "adipose tissue rheumatism", "adiposis dolorosa", "lipomatosis dolorosa" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0007070" }, { "id": 8530, "label": "isolated anhidrosis with normal sweat glands", "isLeaf": true, "isRoot": false, "parents": [ 8014, 19144, 20387, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060603", "GARD:0017843", "MEDGEN:1800259", "OMIM:106190", "Orphanet:468666", "UMLS:C5568836" ], "synonyms": [ "Dann-Epstein-Sohar syndrome", "ITPR2 anhidrosis", "anhidrosis caused by mutation in ITPR2", "ANHD", "anhidrosis, isolated, with normal sweat glands", "isolated generalised anhidrosis with normal sweat glands", "isolated generalized anhidrosis with normal sweat glands" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." }, "child_count": 0, "reference_id": "MONDO:0007118" }, { "id": 8975, "label": "fibrodysplasia ossificans progressiva", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6893, 19144 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13374", "GARD:0006445", "ICD10CM:M61.1", "ICD9:728.11", "MEDGEN:4698", "MedDRA:10068715", "NANDO:1200871", "NANDO:2201020", "NCIT:C3040", "NORD:1143", "OMIM:135100", "Orphanet:337", "SCTID:82725007", "UMLS:C0016037", "icd11.foundation:2102976705" ], "synonyms": [ "FOP", "Stone Man syndrome", "Stone man syndrome", "fibrodysplasia ossificans progressiva", "fop", "progressive myositis ossificans", "myositis ossificans progressiva" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." }, "child_count": 0, "reference_id": "MONDO:0007606" }, { "id": 9241, "label": "multiple symmetric lipomatosis", "isLeaf": false, "isRoot": false, "parents": [ 3052, 8054, 19144, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14116", "EFO:1000737", "GARD:0006957", "MEDGEN:7349", "NCIT:C4392", "NORD:1392", "OMIM:151800", "Orphanet:2398", "SCTID:238902007", "UMLS:C0023804" ], "synonyms": [ "Madelung disease", "Launois-Bensaude lipomatosis", "Madelung's Disease", "cephalothoracic lipodystrophy", "cervical symmetrical lipomatosis", "familial benign cervical lipomatosis", "lipodystrophy, cephalothoracic", "lipomatosis, familial benign cervical", "multiple symmetric lipomatosis", "multiple symmetrical lipomatosis", "Launois-Bensaude syndrome", "MSL", "Madelung's disease", "benign symmetrical lipomatosis", "familial symmetric lipomatosis", "lipomatosis, multiple symmetric" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures)." }, "child_count": 4, "reference_id": "MONDO:0007908" }, { "id": 9242, "label": "familial multiple lipomatosis", "isLeaf": true, "isRoot": false, "parents": [ 3052, 6833, 19144 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070518", "GARD:0012925", "ICD9:214.8", "ICD9:214.9", "MEDGEN:698553", "MESH:D000071070", "OMIM:151900", "Orphanet:199276", "SCTID:766888002", "UMLS:C1275273" ], "synonyms": [ "lipoma", "lipomatosis, familial multiple", "lipomatosis, multiple" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported." }, "child_count": 0, "reference_id": "MONDO:0007909" }, { "id": 10063, "label": "familial angiolipomatosis", "isLeaf": true, "isRoot": false, "parents": [ 19144 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017089", "MEDGEN:347235", "MESH:C565951", "OMIM:206550", "Orphanet:199279", "UMLS:C1859784" ], "synonyms": [ "angiolipoma Microthromboticum", "angiolipomatosis, familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously." }, "child_count": 0, "reference_id": "MONDO:0008792" }, { "id": 10208, "label": "cerebrotendinous xanthomatosis", "isLeaf": true, "isRoot": false, "parents": [ 4666, 7019, 16607, 18952, 19085, 19144, 19712, 19748, 19753, 23512 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4810", "GARD:0005622", "MEDGEN:116041", "MESH:D019294", "NANDO:1200856", "NCIT:C84628", "NORD:915", "OMIM:213700", "Orphanet:909", "SCTID:63246000", "UMLS:C0238052", "icd11.foundation:1556875179" ], "synonyms": [ "CTX", "CTx", "cerebrotendinous xanthomatosis", "cholestanol storage disease", "sterol 27-hydroxylase deficiency", "cerebral cholesterinosis" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." }, "child_count": 0, "reference_id": "MONDO:0008948" }, { "id": 11051, "label": "dissecting cellulitis of the scalp", "isLeaf": true, "isRoot": false, "parents": [ 19144 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001883", "ICD9:704.8", "MEDGEN:78097", "MESH:C562486", "MedDRA:10056961", "OMIM:260910", "Orphanet:345", "SCTID:77333008", "UMLS:C0263506", "icd11.foundation:872245808" ], "synonyms": [ "dissecting cellulitis of the scalp", "perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia." }, "child_count": 0, "reference_id": "MONDO:0009848" }, { "id": 12334, "label": "Pierpont syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 19144, 24323 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081362", "GARD:0017885", "MEDGEN:356049", "MESH:C566559", "OMIM:602342", "Orphanet:487825", "UMLS:C1865644" ], "synonyms": [ "Pierpont syndrome", "plantar lipomatosis-facial dysmorphism-developmental delay syndrome", "plantar lipomatosis-unusual facies-developmental delay syndrome", "PIERPONT syndrome", "PRPTS", "plantar lipomatosis, unusual facies, and developmental delay" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear." }, "child_count": 0, "reference_id": "MONDO:0011213" }, { "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": 14112, "label": "encephalocraniocutaneous lipomatosis", "isLeaf": true, "isRoot": false, "parents": [ 8054, 19144, 20564, 21247, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002108", "ICD9:757.8", "MEDGEN:140807", "MESH:C535736", "NCIT:C4701", "OMIM:613001", "Orphanet:2396", "SCTID:238905009", "UMLS:C0406612", "icd11.foundation:1084215843" ], "synonyms": [ "ECCL", "Fishman syndrome", "Haberland syndrome", "encephalocraniocutaneous lipomatosis", "encephalocraniocutaneous lipomatosis, somatic mosaic" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations." }, "child_count": 0, "reference_id": "MONDO:0013074" }, { "id": 14605, "label": "Lipedema", "isLeaf": true, "isRoot": false, "parents": [ 19144 ], "type_id": 0, "properties": { "xrefs": [ "HP:0100695", "MEDGEN:451048", "MESH:D065134", "MedDRA:10063955", "OMIM:614103", "Orphanet:77243", "SCTID:234102003", "UMLS:C0398370" ], "synonyms": [ "Lipedema (disease)", "lipedema" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema." }, "child_count": 0, "reference_id": "MONDO:0013577" }, { "id": 16711, "label": "FLOTCH syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19144 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002346", "MEDGEN:419074", "MESH:C537065", "Orphanet:2045", "UMLS:C2931411" ], "synonyms": [ "leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome", "familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported." }, "child_count": 0, "reference_id": "MONDO:0016083" }, { "id": 17249, "label": "mycetoma", "isLeaf": true, "isRoot": false, "parents": [ 7200, 19144 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003862", "ICD10CM:B47", "ICD10WHO:B47", "MEDGEN:44241", "MESH:D008271", "MedDRA:10028427", "NCIT:C85505", "Orphanet:2583", "SCTID:410039003", "UMLS:C0024449" ], "synonyms": [ "Madura foot" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains." }, "child_count": 0, "reference_id": "MONDO:0016823" }, { "id": 18226, "label": "nodular non-suppurative panniculitis", "isLeaf": true, "isRoot": false, "parents": [ 8067, 19144 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1525", "EFO:1000742", "GARD:0007879", "MEDGEN:10559", "MESH:D010201", "MedDRA:10047883", "Orphanet:33577", "SCTID:33760009", "UMLS:C0030328" ], "synonyms": [ "Pfeiffer-Weber-Christian syndrome", "Relapsing febrile nodular nonsuppurative panniculitis", "Relapsing febrile nodular panniculitis", "WCD", "Weber-Christian disease", "Weber-Christian panniculitis", "idiopathic lobular panniculitis", "idiopathic nodular panniculitis", "nodular nonsuppurative panniculitis", "Weber Christian disease", "panniculitis nodular nonsuppurative" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat." }, "child_count": 0, "reference_id": "MONDO:0018063" }, { "id": 18815, "label": "Roch-Leri mesosomatous lipomatosis", "isLeaf": true, "isRoot": false, "parents": [ 19144 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004733", "MEDGEN:896565", "Orphanet:529", "SCTID:716772007", "UMLS:C4274284" ], "synonyms": [ "Roch-Leri syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984." }, "child_count": 0, "reference_id": "MONDO:0018884" }, { "id": 19532, "label": "cytophagic histiocytic panniculitis", "isLeaf": true, "isRoot": false, "parents": [ 8067, 19144 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019249", "MEDGEN:590528", "Orphanet:94087", "SCTID:238883003", "UMLS:C0406594", "icd11.foundation:1978274002" ], "synonyms": [ "CHP", "Winkelmann cytophagic panniculitis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue." }, "child_count": 0, "reference_id": "MONDO:0019789" } ], "roots": [ { "id": 4198, "label": "integumentary system disorder" } ] }