{ "id": 21213, "label": "disorder of facial skeleton", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0023369", "properties": { "xrefs": [ "MEDGEN:712533", "UMLS:C1290148" ], "synonyms": [ "disease of facial skeleton", "disease or disorder of facial skeleton", "disorder of facial skeleton", "facial skeleton disease", "facial skeleton disease or disorder", "maxillo-facial disease", "maxillofacial anomaly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease that involves the facial skeleton." }, "isLeaf": false, "isRoot": false, "child_count": 20, "parents": [ { "id": 21562, "label": "skull disorder", "isLeaf": false, "isRoot": false, "parents": [ 7061 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:226937", "NCIT:C27655", "SCTID:118945008", "UMLS:C1290854" ], "synonyms": [ "disease of skull", "disease or disorder of skull", "disorder of skull", "skull disease", "skull disease or disorder", "skull disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A non-neoplastic or neoplastic disorder that affects structures of the skull." }, "child_count": 6, "reference_id": "MONDO:0024654" } ], "children": [ { "id": 2863, "label": "orofacial cleft", "isLeaf": false, "isRoot": false, "parents": [ 5714, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050567", "MEDGEN:472000", "OMIMPS:119530", "SCTID:449790007", "UMLS:C3266076" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disorder of facial skeleton that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development." }, "child_count": 32, "reference_id": "MONDO:0000358" }, { "id": 5888, "label": "sphenoidal sinus neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4813, 6984, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6947", "GARD:0023791", "MEDGEN:87511", "NCIT:C6792", "SCTID:126679002", "UMLS:C0345676" ], "synonyms": [ "neoplasm of sphenoid sinus", "neoplasm of sphenoidal sinus", "neoplasm of the sphenoid sinus", "neoplasm of the sphenoidal sinus", "sphenoid sinus neoplasm", "sphenoid sinus tumor", "sphenoid sinus tumour", "sphenoidal sinus neoplasm", "sphenoidal sinus neoplasm (disease)", "sphenoidal sinus tumor", "sphenoidal sinus tumour", "tumor of sphenoid sinus", "tumor of sphenoidal sinus", "tumor of the sphenoid sinus", "tumor of the sphenoidal sinus", "tumour of sphenoid sinus", "tumour of sphenoidal sinus", "tumour of the sphenoid sinus", "tumour of the sphenoidal sinus" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma." }, "child_count": 6, "reference_id": "MONDO:0004047" }, { "id": 6128, "label": "suprasellar meningioma", "isLeaf": true, "isRoot": false, "parents": [ 4997, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7634", "GARD:0023926", "MEDGEN:234911", "NCIT:C6776", "UMLS:C1336535" ], "synonyms": [ "meningioma (disease) of sella turcica", "sella turcica meningioma (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A meningioma that affects the suprasellar region." }, "child_count": 0, "reference_id": "MONDO:0004312" }, { "id": 6155, "label": "tuberculum sellae meningioma", "isLeaf": true, "isRoot": false, "parents": [ 4759, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7713", "GARD:0023945", "MEDGEN:277835", "NCIT:C5284", "UMLS:C1336829" ], "synonyms": [ "meningioma of the tuberculum sellae", "meningioma of tuberculum sellae", "sella turcica neoplasm of tuberculum sellae", "tuberculum sellae sella turcica neoplasm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A meningioma that affects the tuberculum sellae." }, "child_count": 0, "reference_id": "MONDO:0004339" }, { "id": 7377, "label": "ethmoid sinusitis", "isLeaf": false, "isRoot": false, "parents": [ 7553, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9507", "EFO:0007264", "MEDGEN:5046", "MESH:D015521", "NCIT:C34597", "SCTID:18643000", "UMLS:C0015029" ], "synonyms": [ "ethmoid bone sinusitis", "ethmoidal sinusitis", "sinusitis of ethmoid bone" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus." }, "child_count": 4, "reference_id": "MONDO:0005756" }, { "id": 7454, "label": "maxillary sinusitis", "isLeaf": false, "isRoot": false, "parents": [ 7553, 8301, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2051", "EFO:0007361", "MEDGEN:44313", "MESH:D015523", "NCIT:C34809", "SCTID:88348008", "UMLS:C0024959" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus." }, "child_count": 6, "reference_id": "MONDO:0005842" }, { "id": 7556, "label": "sphenoid sinusitis", "isLeaf": false, "isRoot": false, "parents": [ 7553, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10794", "EFO:0007489", "MEDGEN:11543", "MESH:D015524", "NCIT:C35031", "SCTID:13266007", "UMLS:C0037886" ], "synonyms": [ "sinusitis of sphenoid bone", "sphenoid bone sinusitis", "sphenoidal sinusitis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." }, "child_count": 4, "reference_id": "MONDO:0005964" }, { "id": 8056, "label": "maxillary sinus cholesteatoma", "isLeaf": true, "isRoot": false, "parents": [ 3922, 8016, 8301, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:867", "MEDGEN:277346", "NCIT:C35868", "UMLS:C1334644" ], "synonyms": [ "cholesteatoma (disease) of maxillary sinus", "maxillary sinus cholesteatoma (disease)" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment." }, "child_count": 0, "reference_id": "MONDO:0006577" }, { "id": 16263, "label": "facial cleft", "isLeaf": false, "isRoot": false, "parents": [ 19507, 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019964", "MEDGEN:146898", "NCIT:C124510", "Orphanet:141229", "SCTID:92821006", "UMLS:C0685787", "icd11.foundation:11389088" ], "synonyms": [ "cleft face", "craniofacial cleft", "prosoposchisis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences." }, "child_count": 18, "reference_id": "MONDO:0015411" }, { "id": 16327, "label": "macroglossia", "isLeaf": false, "isRoot": false, "parents": [ 19507, 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003342", "MEDGEN:44236", "MESH:D008260", "MedDRA:10025391", "Orphanet:156207", "UMLS:C0024421", "icd11.foundation:670519908" ], "synonyms": [ "enlarged tongue", "giant tongue" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" }, "child_count": 2, "reference_id": "MONDO:0015496" }, { "id": 16572, "label": "oculomaxillofacial dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 18362, 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004046", "MEDGEN:333072", "MESH:C537736", "Orphanet:1794", "SCTID:763830009", "UMLS:C1838348", "icd11.foundation:921026296" ], "synonyms": [ "Richieri-Costa-Gorlin syndrome", "Richieri Costa Gorlin syndrome", "oblique facial clefts", "oculomaxillofacial dysplasia with oblique facial clefts" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported." }, "child_count": 4, "reference_id": "MONDO:0015824" }, { "id": 17904, "label": "congenital hereditary facial paralysis-variable hearing loss syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017379", "MEDGEN:928261", "Orphanet:306530", "SCTID:722389002", "UMLS:C4302592" ], "synonyms": [ "congenital hereditary facial palsy with variable deafness", "congenital hereditary facial palsy with variable hearing loss", "congenital hereditary facial paralysis with variable deafness", "congenital hereditary facial paralysis-variable deafness syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus." }, "child_count": 4, "reference_id": "MONDO:0017627" }, { "id": 17905, "label": "myospherulosis", "isLeaf": true, "isRoot": false, "parents": [ 21213 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021255", "ICD9:136.8", "MEDGEN:507970", "Orphanet:306553", "SCTID:81139004", "UMLS:C0027123" ], "synonyms": [ "spherulocytosis", "subcutaneous spherulocystic disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0017628" }, { "id": 18310, "label": "oral submucous fibrosis", "isLeaf": true, "isRoot": false, "parents": [ 8301, 21213 ], "type_id": 0, "properties": { "xrefs": [ "DOID:5773", "EFO:1001818", "GARD:0007264", "ICD10CM:K13.5", "ICD9:528.8", "MEDGEN:45213", "MESH:D009914", "NCIT:C34866", "Orphanet:357154", "SCTID:32883009", "UMLS:C0029172", "icd11.foundation:1798376929" ], "synonyms": [ "OSMF", "oral cavity submucous fibrosis", "oral submucosal fibrosis, including of tongue" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." }, "child_count": 0, "reference_id": "MONDO:0018166" }, { "id": 18835, "label": "craniopharyngioma", "isLeaf": false, "isRoot": false, "parents": [ 3033, 3036, 4600, 4759, 21213, 22952 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3840", "EFO:1000209", "GARD:0010486", "ICD9:237.0", "ICDO:9350/1", "MEDGEN:41339", "MESH:D003397", "MedDRA:10011318", "NANDO:2200091", "NCIT:C2964", "NORD:1996", "Orphanet:54595", "SCTID:189179009", "UMLS:C0010276" ], "synonyms": [ "Rathke pouch neoplasm", "Rathke pouch tumor", "Rathke pouch tumour", "Rathke's pouch neoplasm", "Rathke's pouch tumor", "Rathke's pouch tumour", "craniopharyngioma (WHO grade I)", "craniopharyngioma (morphologic abnormality)", "craniopharyngioma, benign", "neoplasm of Rathke's pouch", "tumor of Rathke's pouch", "tumour of Rathke's pouch", "Adamantinomatous tumor", "Adamantinomatous tumour", "Dysodontogenic epithelial tumor", "Dysodontogenic epithelial tumour", "craniopharyngeal duct tumor", "craniopharyngeal duct tumour", "cystoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO)" }, "child_count": 12, "reference_id": "MONDO:0018907" }, { "id": 20552, "label": "polyp of sphenoidal sinus", "isLeaf": true, "isRoot": false, "parents": [ 3922, 6807, 21213 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:471.8", "MEDGEN:75538", "NCIT:C3933", "SCTID:90685008", "UMLS:C0264255" ], "synonyms": [ "polyp of sphenoid sinus", "polyp of the sphenoid sinus", "polyp of the sphenoidal sinus", "sphenoid sinus polyp", "sphenoidal sinus polyp" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A polyp that involves the sphenoidal sinus." }, "child_count": 0, "reference_id": "MONDO:0021404" }, { "id": 20554, "label": "polyp of maxillary sinus", "isLeaf": true, "isRoot": false, "parents": [ 3922, 6807, 8301, 21213 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:471.8", "MEDGEN:120498", "NCIT:C3931", "SCTID:29074008", "UMLS:C0264239" ], "synonyms": [ "maxillary antral polyp", "maxillary sinus polyp", "polyp of the maxillary sinus" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ], "definition": "A polyp that involves the maxillary sinus." }, "child_count": 0, "reference_id": "MONDO:0021412" }, { "id": 20677, "label": "neoplasm of jaw", "isLeaf": false, "isRoot": false, "parents": [ 8301, 20434, 21213, 21561 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025339", "ICD9:239.89", "MEDGEN:43991", "SCTID:126634001", "UMLS:C0022364" ], "synonyms": [ "jaw skeleton neoplasm", "jaw skeleton neoplasm (disease)", "jaw skeleton tumor", "jaw skeleton tumour", "neoplasm of jaw skeleton", "tumor of jaw skeleton", "tumour of jaw skeleton" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "A neoplasm (disease) that involves the jaw skeleton." }, "child_count": 20, "reference_id": "MONDO:0021580" }, { "id": 21526, "label": "orbit neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 4171, 21213, 21561 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025436", "MEDGEN:18190", "NCIT:C3290", "UMLS:C0029185" ], "synonyms": [ "neoplasm of orbit", "neoplasm of orbit of skull", "neoplasm of the orbit", "orbit neoplasm", "orbit of skull neoplasm", "orbit of skull tumor", "orbit of skull tumour", "orbit tumor", "orbit tumour", "orbital neoplasm", "orbital neoplasms", "orbital tumor", "orbital tumour", "tumor of orbit", "tumor of orbit of skull", "tumor of the orbit", "tumour of orbit", "tumour of orbit of skull", "tumour of the orbit" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign or malignant neoplasm that affects the orbit." }, "child_count": 6, "reference_id": "MONDO:0024611" }, { "id": 22747, "label": "osteoradionecrosis of the mandible", "isLeaf": true, "isRoot": false, "parents": [ 8301, 21213, 23240 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022138", "MEDGEN:713081", "Orphanet:521127", "UMLS:C1290728", "icd11.foundation:677862301" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033839" } ], "roots": [ { "id": 21562, "label": "skull disorder" } ] }