{ "id": 4198, "label": "integumentary system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0002051", "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." }, "isLeaf": false, "isRoot": false, "child_count": 36, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 2759, "label": "Neu-Laxova syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 4370, 16080, 16087, 16198, 18528 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000102", "ICD9:759.89", "MEDGEN:78537", "MESH:C536405", "OMIMPS:256520", "Orphanet:2671", "SCTID:77817004", "UMLS:C0265218", "icd11.foundation:893358230" ], "synonyms": [ "NLS", "Neu Laxova syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism." }, "child_count": 18, "reference_id": "MONDO:0000179" }, { "id": 2799, "label": "cutaneous mycosis", "isLeaf": false, "isRoot": false, "parents": [ 4188, 4198 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050134", "SCTID:14560005" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis." }, "child_count": 10, "reference_id": "MONDO:0000254" }, { "id": 3052, "label": "integumentary system benign neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4198, 6887 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060121" ], "synonyms": [ "integumental system benign neoplasm" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A benign neoplasm that involves the integumental system." }, "child_count": 16, "reference_id": "MONDO:0000652" }, { "id": 3053, "label": "integumentary system cancer", "isLeaf": false, "isRoot": false, "parents": [ 4198, 6733 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060122" ], "synonyms": [ "cancer of integumental system", "integumental system cancer", "malignant integumental system neoplasm", "malignant neoplasm of integumental system" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A malignant neoplasm involving the integumental system" }, "child_count": 14, "reference_id": "MONDO:0000653" }, { "id": 4562, "label": "nipple neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4198, 20340 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3003", "MEDGEN:205111", "NCIT:C5212", "UMLS:C1112166" ], "synonyms": [ "neoplasm of nipple", "neoplasm of the nipple", "nipple neoplasm", "nipple neoplasm (disease)", "nipple tumor", "nipple tumour", "tumor of nipple", "tumor of the nipple", "tumour of nipple", "tumour of the nipple" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002657", "name": "breast disorder" } ], "definition": "A benign or malignant neoplasm that arises in the area of the nipple." }, "child_count": 6, "reference_id": "MONDO:0002482" }, { "id": 4897, "label": "nail disorder", "isLeaf": false, "isRoot": false, "parents": [ 4198 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4123", "ICD9:703", "ICD9:703.8", "ICD9:703.9", "MEDGEN:10171", "MESH:D009260", "SCTID:17790008", "UMLS:C0027339" ], "synonyms": [ "disease of nail", "disease or disorder of nail", "disorder of nail", "nail disease", "nail disease or disorder" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease involving the nail." }, "child_count": 7, "reference_id": "MONDO:0002884" }, { "id": 4924, "label": "disorder of pilosebaceous unit", "isLeaf": false, "isRoot": false, "parents": [ 4198 ], "type_id": 0, "properties": { "xrefs": [ "DOID:421", "ICD9:704.8", "ICD9:704.9", "MEDGEN:640417", "MESH:D006201", "NCIT:C34656", "SCTID:201128002", "UMLS:C0554472" ], "synonyms": [ "disease of pilosebaceous unit", "disease or disorder of pilosebaceous unit", "disorder of pilosebaceous unit", "hair and hair follicle diseases", "hair disorder", "hair/hair follicle diseases", "pilosebaceous unit disease", "pilosebaceous unit disease or disorder", "hair disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease that involves the pilosebaceous unit." }, "child_count": 9, "reference_id": "MONDO:0002917" }, { "id": 6386, "label": "Bartholin duct cyst", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:851", "ICD10CM:N75.0", "ICD9:616.2", "MEDGEN:14032", "SCTID:57044006", "UMLS:C0004767" ], "synonyms": [ "cyst of Bartholin's gland" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice." }, "child_count": 0, "reference_id": "MONDO:0004593" }, { "id": 6571, "label": "benign mammary dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4708 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9504", "ICD10CM:N60", "ICD10WHO:N60", "ICD9:610.8", "ICD9:610.9", "MEDGEN:726820", "SCTID:57993004", "UMLS:C1305934" ], "synonyms": [ "benign mammary dysplasia", "benign dysplasia of breast" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002657", "name": "breast disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0004808" }, { "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" }, { "id": 7686, "label": "breast fibrosis", "isLeaf": true, "isRoot": false, "parents": [ 4198, 5604, 20340 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10353", "EFO:1000145", "ICD10CM:N60.3", "ICD9:610.3", "MEDGEN:57627", "NCIT:C3660", "SCTID:29070004", "UMLS:C0156318" ], "synonyms": [ "breast fibrosclerosis", "breast fibrosis", "fibrosclerosis of breast", "fibrosclerosis of the breast", "fibrosis of breast", "fibrosis of the breast" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002657", "name": "breast disorder" } ], "definition": "Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma." }, "child_count": 0, "reference_id": "MONDO:0006118" }, { "id": 7687, "label": "breast mucosa-associated lymphoid tissue lymphoma", "isLeaf": true, "isRoot": false, "parents": [ 4198, 9011 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024300", "MEDGEN:234051", "NCIT:C35688", "UMLS:C1332633" ], "synonyms": [ "breast MALT lymphoma", "breast mucosa-associated lymphoid tissue lymphoma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor." }, "child_count": 0, "reference_id": "MONDO:0006119" }, { "id": 8067, "label": "panniculitis", "isLeaf": false, "isRoot": false, "parents": [ 4198, 5762, 20399 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1526", "EFO:1000746", "ICD9:729.3", "ICD9:729.30", "ICD9:729.39", "MEDGEN:45301", "MESH:D015434", "NCIT:C33645", "SCTID:22125009", "UMLS:C0030326", "Wikipedia:Panniculitis", "icd11.foundation:1056888958" ], "synonyms": [ "Subcutaneous adipose tissue", "Subcutaneous tissue", "inflammation of subcutaneous adipose tissue", "subcutaneous adipose tissue inflammation", "subcutis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Inflammation of the subcutaneous adipose tissue." }, "child_count": 18, "reference_id": "MONDO:0006591" }, { "id": 8498, "label": "alopecia-epilepsy-pyorrhea-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000607", "MEDGEN:350833", "MESH:C537057", "OMIM:104130", "Orphanet:1008", "SCTID:720980004", "UMLS:C1863090" ], "synonyms": [ "Shokeir syndrome", "alopecia, epilepsy, pyorrhea, mental subnormality", "alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality", "congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant." }, "child_count": 0, "reference_id": "MONDO:0007085" }, { "id": 8810, "label": "autosomal dominant deafness - onychodystrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080720", "GARD:0004732", "MEDGEN:382676", "OMIM:124480", "Orphanet:79499", "UMLS:C2675730" ], "synonyms": [ "DDOD syndrome", "autosomal dominant deafness-onychodystrophy syndrome", "deafness-onychodystrophy syndrome, autosomal dominant", "DDOD", "Ddod syndrome", "Robinson Miller Bensimon syndrome", "Robinson-Miller-Bensimon syndrome", "deafness and onychodystrophy, dominant form", "deafness, congenital, and onychodystrophy, autosomal dominant", "deafness, congenital, with onychodystrophy, autosomal dominant", "familial ectodermal dysplasia with sensori-neural deafness and other anomalies" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." }, "child_count": 0, "reference_id": "MONDO:0007420" }, { "id": 8812, "label": "keratoderma hereditarium mutilans", "isLeaf": true, "isRoot": false, "parents": [ 4198, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111339", "GARD:0003092", "ICD9:757.39", "MEDGEN:78579", "MESH:C536457", "OMIM:124500", "Orphanet:494", "SCTID:24559001", "UMLS:C0265964" ], "synonyms": [ "PPK mutilans and deafness", "Vohwinkel syndrome", "keratoderma hereditarium mutilans", "mutilating keratoderma of Vohwinkel", "mutilating keratoderma plus deafness", "KHM", "VOWNKL", "deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes", "mutilating keratoderma" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0007422" }, { "id": 9689, "label": "Rombo syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 5714 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004738", "MEDGEN:356704", "MESH:C535870", "OMIM:180730", "Orphanet:3110", "SCTID:721904001", "UMLS:C1867147" ], "synonyms": [ "Rombo syndrome", "vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas." }, "child_count": 0, "reference_id": "MONDO:0008390" }, { "id": 11225, "label": "Sjogren-Larsson syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 7019, 7611, 16607, 18270, 18952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14501", "GARD:0007654", "MEDGEN:11443", "MESH:D016111", "MedDRA:10048676", "NANDO:1200620", "NANDO:2200994", "NCIT:C85070", "NORD:1377", "OMIM:270200", "Orphanet:816", "SCTID:111303009", "UMLS:C0037231", "icd11.foundation:418359090" ], "synonyms": [ "SLS", "Senior-Løken Syndrome", "Sjogren-Larsson syndrome", "fatty acid alcohol oxidoreductase deficiency", "FADH deficiency", "FALDH deficiency", "FAO deficiency", "Sjögren-Larsson syndrome", "fatty alcohol:NAD+ oxidoreductase deficiency", "fatty aldehyde dehydrogenase deficiency", "ichthyosis, spastic neurologic disorder, and oligophrenia" ], "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": "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." }, "child_count": 0, "reference_id": "MONDO:0010031" }, { "id": 11275, "label": "mucosulfatidosis", "isLeaf": true, "isRoot": false, "parents": [ 4198, 16198, 19116, 24806 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050441", "GARD:0005061", "MEDGEN:75664", "MESH:D052517", "NANDO:1200083", "NANDO:1200624", "NANDO:2200566", "NCIT:C84908", "NORD:1471", "OMIM:272200", "Orphanet:585", "SCTID:54898003", "UMLS:C0268263", "icd11.foundation:848083807" ], "synonyms": [ "MSD", "Multiple Sulfatase Deficiency", "juvenile sulfatidosis, Austin type", "mucosulfatidosis", "multiple sulfatase deficiency disease", "sulfatidosis, juvenile, Austin type", "juvenile sulfatidosis", "multiple sulfatase deficiency", "sulfatidosis juvenile, Austin type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus." }, "child_count": 0, "reference_id": "MONDO:0010088" }, { "id": 13155, "label": "ichthyosis prematurity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714, 23261 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009886", "MEDGEN:324839", "MESH:C536271", "NCIT:C62590", "OMIM:608649", "Orphanet:88621", "SCTID:12381000132107", "UMLS:C1837610" ], "synonyms": [ "IPS", "congenital ichthyosis type 4", "ichthyosis prematurity syndrome", "idiopathic pneumonia syndrome", "ichthyosis congenita 4", "ichthyosis congenita IV", "ichthyosis-prematurity syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy." }, "child_count": 0, "reference_id": "MONDO:0012089" }, { "id": 13834, "label": "ANE syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 16526, 18727 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112244", "GARD:0016987", "MEDGEN:394313", "MESH:C567425", "OMIM:612079", "Orphanet:157954", "UMLS:C2677535" ], "synonyms": [ "ANE syndrome", "alopecia-progressive neurological defect-endocrinopathy syndrome", "alopecia, neurologic defects, and endocrinopathy syndrome", "anes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis." }, "child_count": 0, "reference_id": "MONDO:0012794" }, { "id": 14304, "label": "frontonasal dysplasia with alopecia and genital anomaly", "isLeaf": true, "isRoot": false, "parents": [ 4198, 17114 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081046", "GARD:0012641", "MEDGEN:462053", "OMIM:613451", "Orphanet:228390", "SCTID:725029001", "UMLS:C3150703" ], "synonyms": [ "ALX4-related FNDAG", "craniofrontonasal dysplasia with alopecia and hypogonadism", "frontonasal dysplasia type 2", "frontonasal dysplasia with alopecia and genital abnomality", "FND2", "frontonasal dysplasia 2" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." }, "child_count": 0, "reference_id": "MONDO:0013268" }, { "id": 15572, "label": "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070526", "GARD:0017764", "MEDGEN:902464", "OMIM:616295", "Orphanet:444138", "UMLS:C4225381" ], "synonyms": [ "plack syndrome", "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads", "peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome", "plack" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0014574" }, { "id": 15606, "label": "mandibulofacial dysostosis with alopecia", "isLeaf": true, "isRoot": false, "parents": [ 4198, 4370, 5714, 16319 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060365", "GARD:0017758", "MEDGEN:898794", "OMIM:616367", "Orphanet:443995", "UMLS:C4225349" ], "synonyms": [ "MFDA", "mandibulofacial dysostosis with alopecia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." }, "child_count": 0, "reference_id": "MONDO:0014608" }, { "id": 16769, "label": "cutis laxa", "isLeaf": false, "isRoot": false, "parents": [ 4198, 19507 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3144", "GARD:0006227", "MEDGEN:8206", "MESH:D003483", "MedDRA:10011692", "NCIT:C84663", "NORD:1022", "Orphanet:209", "SCTID:58588007", "UMLS:C0010495", "icd11.foundation:1227401566" ], "synonyms": [ "cutis laxa", "elastolysis", "generalised elastolysis", "generalized elastolysis" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." }, "child_count": 4, "reference_id": "MONDO:0016175" }, { "id": 17598, "label": "X-linked ichthyosis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 4370 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021109", "MedDRA:10048063", "Orphanet:281210" ], "synonyms": [ "X-linked inherited ichthyosis syndromic form", "inherited ichthyosis syndromic form, X-linked" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "X-linked form of inherited ichthyosis syndromic form." }, "child_count": 4, "reference_id": "MONDO:0017269" }, { "id": 17604, "label": "demodicidosis", "isLeaf": false, "isRoot": false, "parents": [ 4198, 6859 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001802", "MEDGEN:581217", "Orphanet:283", "UMLS:C0392666", "icd11.foundation:1473144548" ], "synonyms": [ "Demodex caused disease or disorder", "Demodex disease or disorder", "Demodex infectious disease", "Demodicosis", "demodectic mange", "red mange" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings." }, "child_count": 4, "reference_id": "MONDO:0017280" }, { "id": 17852, "label": "Proteus-like syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4198, 17900 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0012801", "MEDGEN:356222", "NCIT:C179930", "Orphanet:2969", "SCTID:716862002", "UMLS:C1866398" ], "synonyms": [ "Cohen-Hayden syndrome", "Proteus like syndrome intellectual disability eye defect", "Proteus like syndrome mental retardation eye defect" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease." }, "child_count": 0, "reference_id": "MONDO:0017571" }, { "id": 18497, "label": "familial atypical multiple mole melanoma syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 16218 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009281", "MEDGEN:389220", "NCIT:C27264", "Orphanet:404560", "UMLS:C2314896" ], "synonyms": [ "melanoma-pancreatic cancer syndrome", "B-K mole syndrome", "FAMM syndrome", "FAMM-PC syndrome", "FAMMM syndrome", "familial Clark nevus syndrome", "familial atypical mole melanoma syndrome", "familial atypical mole syndrome", "familial atypical multiple mole melanoma-pancreatic carcinoma syndrome", "familial dysplastic nevus syndrome" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 2, "reference_id": "MONDO:0018453" }, { "id": 18819, "label": "familial tumoral calcinosis", "isLeaf": false, "isRoot": false, "parents": [ 4198, 4223, 4258 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009385", "GARD:0010877", "MEDGEN:452340", "MedDRA:10059364", "Orphanet:53715", "UMLS:C0263628" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." }, "child_count": 15, "reference_id": "MONDO:0018891" }, { "id": 19144, "label": "subcutaneous tissue disorder", "isLeaf": false, "isRoot": false, "parents": [ 4198 ], "type_id": 0, "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." }, "child_count": 19, "reference_id": "MONDO:0019296" }, { "id": 20353, "label": "Bartholin gland neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4198, 20293 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:65074", "NCIT:C6434", "UMLS:C0220616" ], "synonyms": [ "Bartholin gland neoplasm", "Bartholin's gland neoplasm", "Bartholin's gland tumor", "Bartholin's gland tumour", "major vestibular gland neoplasm", "major vestibular gland neoplasm (disease)", "major vestibular gland tumor", "major vestibular gland tumour", "neoplasm of Bartholin's gland", "neoplasm of major vestibular gland", "neoplasm of the Bartholin's gland", "tumor of Bartholin's gland", "tumor of major vestibular gland", "tumor of the Bartholin's gland", "tumour of Bartholin's gland", "tumour of major vestibular gland", "tumour of the Bartholin's gland" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" } ], "definition": "A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." }, "child_count": 4, "reference_id": "MONDO:0021114" }, { "id": 21341, "label": "pseudoxanthoma elasticum (inherited or acquired)", "isLeaf": false, "isRoot": false, "parents": [ 4198 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:757.39", "MEDGEN:18733", "NANDO:1200643", "SCTID:252246005", "UMLS:C0033847" ], "synonyms": [ "PXE", "pseudoxanthoma elasticum" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract." }, "child_count": 2, "reference_id": "MONDO:0024308" }, { "id": 21436, "label": "skin appendage disorder", "isLeaf": false, "isRoot": false, "parents": [ 4198 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:L60-L75", "MEDGEN:508145", "SCTID:238714008", "UMLS:C0037272" ], "synonyms": [ "cutaneous appendage disease", "cutaneous appendage disease or disorder", "disease of cutaneous appendage", "disease or disorder of cutaneous appendage", "disorder of cutaneous appendage", "disorder of skin appendage", "disease of epidermal appendage", "disease of epidermal appendages" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ], "definition": "A disease that involves the cutaneous appendage." }, "child_count": 4, "reference_id": "MONDO:0024481" }, { "id": 23507, "label": "keratinization disease", "isLeaf": false, "isRoot": false, "parents": [ 4198, 20383 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:635020", "SCTID:277905003", "UMLS:C0475811" ], "synonyms": [ "disorder of keratinization", "keratinization disease" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0045011" }, { "id": 24661, "label": "paraneoplastic cutaneous syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4198, 20314 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Paraneoplastic syndrome that involves the integumental system." }, "child_count": 2, "reference_id": "MONDO:0700266" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }