{ "id": 6893, "label": "skeletal system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0005172", "properties": { "xrefs": [ "EFO:0002461", "MEDGEN:538042", "SCTID:88230002", "UMLS:C0263661" ], "synonyms": [ "disease of skeletal system", "disease or disorder of skeletal system", "disorder of skeletal system", "skeletal system disease", "skeletal system disease or disorder", "disease of bone and/or joint", "osteoarthropathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the skeletal system." }, "isLeaf": false, "isRoot": false, "child_count": 48, "parents": [ { "id": 4222, "label": "musculoskeletal system disorder", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:17", "EFO:0009676", "ICD9:729.99", "MEDGEN:6471", "MESH:D009140", "NCIT:C107377", "SCTID:928000", "UMLS:C0026857" ], "synonyms": [ "disease of musculoskeletal system", "disease or disorder of musculoskeletal system", "disorder of musculoskeletal system", "musculoskeletal disease", "musculoskeletal system disease", "musculoskeletal system disease or disorder", "musculoskeletal system disorder", "musculoskeletal disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the musculoskeletal system." }, "child_count": 22, "reference_id": "MONDO:0002081" } ], "children": [ { "id": 2744, "label": "symphalangism", "isLeaf": false, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1846284", "SCTID:253975004", "UMLS:C5848178" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0000151" }, { "id": 3042, "label": "cartilage cancer", "isLeaf": true, "isRoot": false, "parents": [ 3041, 6893, 20678 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060102", "GARD:0006004", "MEDGEN:1843449", "UMLS:C4290064" ], "synonyms": [ "cancer of cartilage tissue", "cartilage tissue cancer", "cartilaginous cancer", "malignant cartilage tissue neoplasm", "malignant neoplasm of cartilage tissue" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A cancer involving a cartilage tissue." }, "child_count": 0, "reference_id": "MONDO:0000639" }, { "id": 3140, "label": "vertebral column disorder", "isLeaf": false, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060564", "ICD9:724.9", "MEDGEN:52455", "MESH:D013122", "SCTID:699699005", "UMLS:C0037933", "icd11.foundation:1989556002" ], "synonyms": [ "disease of spine", "disease of vertebral column", "disease or disorder of vertebral column", "disorder of vertebral column", "vertebral column disease", "vertebral column disease or disorder", "spinal disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the vertebral column." }, "child_count": 15, "reference_id": "MONDO:0000812" }, { "id": 3300, "label": "patellar tendinitis", "isLeaf": true, "isRoot": false, "parents": [ 6613, 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10471", "ICD10CM:M76.5", "ICD9:726.64", "MEDGEN:510513", "SCTID:37785001", "UMLS:C0158317", "icd11.foundation:1366847963" ], "synonyms": [ "patella tendinitis", "patellar tendonitis", "tendinitis of patella" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A tendinitis that involves the patella." }, "child_count": 0, "reference_id": "MONDO:0001042" }, { "id": 3587, "label": "necrosis of ear ossicle", "isLeaf": true, "isRoot": false, "parents": [ 5217, 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11783", "ICD9:385.24" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002409", "name": "auditory system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0001365" }, { "id": 3881, "label": "laryngeal cartilage cancer", "isLeaf": true, "isRoot": false, "parents": [ 3041, 4451, 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13348", "GARD:0022988", "ICD10CM:C32.3", "ICD9:161.3", "MEDGEN:509306", "SCTID:363431006", "UMLS:C0153486", "icd11.foundation:697702574" ], "synonyms": [ "cancer of laryngeal cartilage", "laryngeal cartilage cancer", "malignant laryngeal cartilage neoplasm", "malignant neoplasm of laryngeal cartilage", "malignant neoplasm of laryngeal cartilages", "malignant tumour of laryngeal cartilage" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A malignant neoplasm involving the laryngeal cartilage." }, "child_count": 0, "reference_id": "MONDO:0001691" }, { "id": 4082, "label": "ochronosis disorder", "isLeaf": false, "isRoot": false, "parents": [ 5762, 6795, 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14223", "GARD:0007231", "HP:0030764", "ICD9:270.2", "MEDGEN:45177", "MESH:D009794", "NCIT:C84938", "SCTID:410042009", "UMLS:C0028817" ], "synonyms": [ "ochronosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis." }, "child_count": 3, "reference_id": "MONDO:0001910" }, { "id": 4459, "label": "chondroma", "isLeaf": false, "isRoot": false, "parents": [ 3040, 6893, 20678, 21426 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2602", "ICDO:9220/0", "MEDGEN:181701", "MESH:D002812", "NCIT:C53459", "UMLS:C0936248" ], "synonyms": [ "chondroma", "chondroma, benign" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes." }, "child_count": 12, "reference_id": "MONDO:0002360" }, { "id": 4686, "label": "periodontal disorder", "isLeaf": false, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3388", "ICD9:523.8", "MEDGEN:10658", "MESH:D010510", "NCIT:C63743", "SCTID:2556008", "UMLS:C0031090" ], "synonyms": [ "disease of periodontium", "disease or disorder of periodontium", "disorder of periodontium", "periodontal disease", "periodontal disorder", "periodontium disease", "periodontium disease or disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support." }, "child_count": 4, "reference_id": "MONDO:0002635" }, { "id": 4926, "label": "posterior cranial fossa meningioma", "isLeaf": false, "isRoot": false, "parents": [ 6893, 17113 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4211", "GARD:0023300", "MEDGEN:290609", "NCIT:C6775", "UMLS:C1565950" ], "synonyms": [ "meningioma (disease) of posterior cranial fossa", "meningioma of posterior cranial fossa", "meningioma of the posterior cranial fossa", "posterior cranial fossa meningioma (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A meningioma that affects the posterior cranial fossa." }, "child_count": 2, "reference_id": "MONDO:0002919" }, { "id": 4996, "label": "anterior cranial fossa meningioma", "isLeaf": false, "isRoot": false, "parents": [ 6893, 17113 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4436", "GARD:0023318", "MEDGEN:272315", "NCIT:C5286", "UMLS:C1332301" ], "synonyms": [ "anterior cranial fossa meningioma (disease)", "anterior fossa meningioma", "meningioma (disease) of anterior cranial fossa", "meningioma of anterior cranial fossa", "meningioma of anterior fossa", "meningioma of the anterior cranial fossa", "meningioma of the anterior fossa" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A meningioma that affects the anterior cranial fossa." }, "child_count": 6, "reference_id": "MONDO:0002997" }, { "id": 5099, "label": "middle cranial fossa meningioma", "isLeaf": false, "isRoot": false, "parents": [ 6893, 17113 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4749", "GARD:0023373", "MEDGEN:277369", "NCIT:C5586", "UMLS:C1334757" ], "synonyms": [ "meningioma (disease) of middle cranial fossa", "meningioma of middle cranial fossa", "meningioma of the middle cranial fossa", "middle cranial fossa meningioma (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A meningioma that affects the middle cranial fossa." }, "child_count": 2, "reference_id": "MONDO:0003121" }, { "id": 5177, "label": "bone marrow disorder", "isLeaf": false, "isRoot": false, "parents": [ 6778, 6893, 7217 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4961", "GARD:0023414", "ICD9:289.9", "MEDGEN:892905", "MESH:D001855", "NCIT:C34433", "SCTID:127035006", "UMLS:C4021634" ], "synonyms": [ "bone marrow disease", "bone marrow disease or disorder", "bone marrow disorder", "disease of bone marrow", "disease or disorder of bone marrow", "disorder of bone marrow" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Any disease of the bone marrow." }, "child_count": 21, "reference_id": "MONDO:0003225" }, { "id": 6008, "label": "cranial nodular fasciitis", "isLeaf": true, "isRoot": false, "parents": [ 6009, 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7326", "GARD:0023866", "MEDGEN:272511", "NCIT:C27248", "UMLS:C1333162" ], "synonyms": [ "cranial nodular fasciitis", "cranial pseudosarcomatous fasciitis" ], "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 self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. 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": 0, "reference_id": "MONDO:0004186" }, { "id": 6987, "label": "flatfoot", "isLeaf": true, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0003874", "ICD9:734", "MEDGEN:42034", "MESH:D005413", "NCIT:C34616", "SCTID:53226007", "UMLS:C0016202" ], "synonyms": [ "fallen Arch", "flat Foot" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground." }, "child_count": 0, "reference_id": "MONDO:0005293" }, { "id": 7061, "label": "bone disorder", "isLeaf": false, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080001", "EFO:0004260", "ICD10CM:M80-M85", "ICD9:731.8", "ICD9:733.99", "MEDGEN:14182", "MESH:D001847", "NANDO:2100291", "NANDO:2100293", "SCTID:76069003", "UMLS:C0005940" ], "synonyms": [ "bone element disease", "bone element disease or disorder", "disease of bone element", "disease or disorder of bone element", "disorder of bone element", "rare bone disease related to a common gene or pathway defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Diseases of bones." }, "child_count": 27, "reference_id": "MONDO:0005381" }, { "id": 7554, "label": "skeletal tuberculosis", "isLeaf": false, "isRoot": false, "parents": [ 2868, 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1639", "EFO:0007487", "GARD:0024264", "ICD9:015", "ICD9:015.9", "MEDGEN:21727", "MESH:D014394", "SCTID:17653001", "UMLS:C0041324" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tuberculosis of the bones or joints." }, "child_count": 2, "reference_id": "MONDO:0005962" }, { "id": 8264, "label": "arthropathy", "isLeaf": false, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:381", "EFO:1000999", "ICD9:711", "ICD9:716.80", "ICD9:716.88", "ICD9:716.9", "ICD9:716.90", "ICD9:716.98", "ICD9:719.80", "ICD9:719.88", "ICD9:719.89", "ICD9:719.9", "ICD9:719.90", "ICD9:719.98", "MEDGEN:7190", "MESH:D007592", "MedDRA:10003285", "NCIT:C35760", "SCTID:399269003", "UMLS:C0022408" ], "synonyms": [ "Joint disorder", "arthropathy", "disease of skeletal joint", "disease or disorder of skeletal joint", "disorder of skeletal joint", "disorder, Joint", "skeletal joint disease", "skeletal joint disease or disorder", "Joint ankylosis of the ankle and foot", "Joint ankylosis of the forearm", "Joint ankylosis of the hand", "Joint ankylosis of the lower leg", "Joint ankylosis of the pelvic region and thigh", "Joint ankylosis of the shoulder region", "Joint ankylosis of the upper arm", "ankylosis of ankle and foot joint", "ankylosis of forearm joint", "ankylosis of hand joint", "ankylosis of joint of multiple sites", "ankylosis of joint of pelvic region and thigh", "ankylosis of joint of shoulder region", "ankylosis of lower leg joint", "ankylosis of multiple joints", "ankylosis of upper arm joint", "infectious arthropathy", "arthrosis", "disorder of joint", "joint disease", "joint disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any disorder of the joints." }, "child_count": 24, "reference_id": "MONDO:0006816" }, { "id": 8422, "label": "tooth disorder", "isLeaf": false, "isRoot": false, "parents": [ 6893, 8301 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1091", "EFO:1001216", "MEDGEN:11852", "MESH:D014076", "NCIT:C35077", "SCTID:234947003", "UMLS:C0040435" ], "synonyms": [ "calcareous tooth disease", "calcareous tooth disease or disorder", "dental disorder", "disease of calcareous tooth", "disease or disorder of calcareous tooth", "disorder of calcareous tooth", "tooth disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0006858", "name": "mouth disorder" } ], "definition": "A disease involving the calcareous tooth." }, "child_count": 22, "reference_id": "MONDO:0006999" }, { "id": 8595, "label": "primary basilar invagination", "isLeaf": true, "isRoot": false, "parents": [ 6893, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001037", "MEDGEN:400018", "MESH:C566226", "OMIM:109500", "Orphanet:2285", "UMLS:C1862299" ], "synonyms": [ "Bull-Nixon syndrome", "basilar impression, primary", "primary basilar impression" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction." }, "child_count": 0, "reference_id": "MONDO:0007188" }, { "id": 8635, "label": "Brachymorphism-onychodysplasia-dysphalangism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6893, 16088, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000918", "MEDGEN:350585", "MESH:C536242", "OMIM:113477", "Orphanet:1292", "SCTID:720573009", "UMLS:C1862082" ], "synonyms": [ "Brachymorphism-onychodysplasia-dysphalangism syndrome", "Senior syndrome", "bod syndrome", "Brachymorphism onychodysplasia dysphalangism syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants." }, "child_count": 0, "reference_id": "MONDO:0007230" }, { "id": 8714, "label": "cherubism", "isLeaf": false, "isRoot": false, "parents": [ 2903, 6893, 16089, 16218, 19503, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1856", "GARD:0006036", "ICD9:526.89", "MEDGEN:40219", "MESH:D002636", "MedDRA:10070535", "NANDO:2200444", "NCIT:C84630", "OMIM:118400", "Orphanet:184", "SCTID:76098004", "UMLS:C0008029", "icd11.foundation:1729261719" ], "synonyms": [ "CRBM", "cherubism", "familial fibrous dysplasia of the jaws", "familial multilocular cystic disease of the jaws", "Crbm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." }, "child_count": 6, "reference_id": "MONDO:0007315" }, { "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": 9277, "label": "Marfan syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 6893, 17630 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14323", "GARD:0016535", "ICD10CM:Q87.4", "ICD9:759.82", "MEDGEN:44287", "MESH:D008382", "MedDRA:10026829", "NANDO:1200644", "NANDO:2200968", "NCIT:C34807", "NORD:1403", "OMIM:154700", "Orphanet:284963", "Orphanet:558", "SCTID:19346006", "UMLS:C0024796", "icd11.foundation:236564145" ], "synonyms": [ "MFS", "MFS1", "Marfan syndrome", "Marfan syndrome type 1", "Marfan syndrome, type 1", "Marfan's syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person." }, "child_count": 4, "reference_id": "MONDO:0007947" }, { "id": 9468, "label": "Buschke-Ollendorff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 20345 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111536", "GARD:0027355", "MEDGEN:120545", "MESH:C537415", "OMIM:166700", "Orphanet:1306", "UMLS:C0265514", "icd11.foundation:1556522143" ], "synonyms": [ "Buschke-Ollendorff syndrome", "osteopoikilosis with or without melorheostosis", "Bos", "Buschke Ollendorff syndrome", "Dermatoosteopoikilosis", "dermatofibrosis lenticularis disseminata with osteopoikilosis", "dermatofibrosis lenticularis disseminata, isolated", "dermatofibrosis, disseminated with osteopoikilosis", "dermatofibrosis, disseminated, with osteopoikilosis", "osteopathia condensans disseminata", "osteopoikilosis with melorheostosis", "osteopoikilosis, isolated" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin." }, "child_count": 0, "reference_id": "MONDO:0008157" }, { "id": 9702, "label": "scalp defects-postaxial polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 18956, 19143, 23867 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000241", "MEDGEN:401140", "MESH:C536622", "OMIM:181250", "Orphanet:1003", "UMLS:C1867021" ], "synonyms": [ "congenital scalp defects associated with postaxial polydactyly", "scalp defects and postaxial polydactyly", "scalp defects postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A." }, "child_count": 0, "reference_id": "MONDO:0008403" }, { "id": 10815, "label": "cartilage-hair hypoplasia", "isLeaf": false, "isRoot": false, "parents": [ 6893, 7611, 16471, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14773", "GARD:0006996", "MEDGEN:67398", "MESH:C535916", "MedDRA:10069596", "NCIT:C61245", "NORD:1414", "OMIM:250250", "Orphanet:175", "SCTID:7720002", "UMLS:C0220748", "icd11.foundation:469051294" ], "synonyms": [ "McKusick Type Metaphyseal Chondrodysplasia", "autosomal recessive metaphyseal chondrodysplasia", "cartilage hair hypoplasia", "cartilage-hair hypoplasia", "metaphyseal chondrodysplasia, McKusick type", "CHH", "cartilage hair hypoplasia like syndrome", "metaphyseal chondrodysplasia McKusick type", "metaphyseal chondrodysplasia, Mckusick type" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth." }, "child_count": 4, "reference_id": "MONDO:0009595" }, { "id": 11288, "label": "Teebi-Shaltout syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6893, 19138 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005125", "MEDGEN:376472", "MESH:C536950", "OMIM:272950", "Orphanet:3291", "UMLS:C1848912" ], "synonyms": [ "Teebi-Shaltout syndrome", "TBSH", "Teebi Shaltout syndrome", "craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features." }, "child_count": 0, "reference_id": "MONDO:0010101" }, { "id": 12347, "label": "short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6893, 16089, 18718 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017633", "MEDGEN:355971", "MESH:C566544", "OMIM:602471", "Orphanet:397623", "SCTID:417081007", "UMLS:C1865361" ], "synonyms": [ "SAMS syndrome", "short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities", "SAMS", "short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024623", "name": "otorhinolaryngologic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0011227" }, { "id": 12350, "label": "ossification of the posterior longitudinal ligament of the spine", "isLeaf": true, "isRoot": false, "parents": [ 6893, 21247 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060887", "EFO:0005895", "GARD:0027799", "MEDGEN:355447", "MESH:C537143", "NANDO:1200371", "NCIT:C84975", "OMIM:602475", "SCTID:90448008", "UMLS:C1865343" ], "synonyms": [ "OPLL", "ossification of Posterior longitudinal ligament", "ossification of the POSTERIOR longitudinal ligament of spine" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms." }, "child_count": 0, "reference_id": "MONDO:0011230" }, { "id": 12631, "label": "temtamy preaxial brachydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 7611, 16168, 16198, 18956 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050814", "GARD:0009679", "MEDGEN:381425", "MESH:C536958", "OMIM:605282", "Orphanet:363417", "UMLS:C1854466" ], "synonyms": [ "preaxial brachydactyly syndrome, TEMTAMY type", "temtamy preaxial brachydactyly syndrome", "TEMTAMY preaxial brachydactyly syndrome", "TPBS", "intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies", "mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies", "preaxial brachydactyly syndrome, Temtamy type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene." }, "child_count": 0, "reference_id": "MONDO:0011533" }, { "id": 13196, "label": "metaphyseal undermodeling, spondylar dysplasia, and overgrowth", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6893 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010066", "MEDGEN:373306", "MESH:C537355", "OMIM:608811", "Orphanet:498485", "UMLS:C1837316" ], "synonyms": [ "metaphyseal undermodeling, spondylar dysplasia, and overgrowth", "overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012131" }, { "id": 13339, "label": "Al-Gazali syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6893, 16198, 18956, 24309 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010054", "MEDGEN:373020", "MESH:C536817", "OMIM:609465", "Orphanet:2725", "UMLS:C1836121" ], "synonyms": [ "Al-Gazali syndrome", "Al Gazali Al Talabani syndrome", "Al Gazali syndrome", "eye defects arachnodactyly cardiopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality." }, "child_count": 0, "reference_id": "MONDO:0012282" }, { "id": 13592, "label": "brachydactyly-syndactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2905, 6893 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050689", "GARD:0016821", "MEDGEN:377836", "MESH:C565193", "OMIM:610713", "Orphanet:93409", "UMLS:C1853137" ], "synonyms": [ "brachydactyly-syndactyly syndrome", "BDSD", "Bdsd", "brachydactyly-syndactyly, Zhao type", "brachydactyly-syndactyly-oligodactyly syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." }, "child_count": 0, "reference_id": "MONDO:0012544" }, { "id": 14020, "label": "endocrine-cerebro-osteodysplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6893, 23110 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060641", "GARD:0017094", "MEDGEN:390740", "MESH:C567210", "OMIM:612651", "Orphanet:199332", "SCTID:723309006", "UMLS:C2675227", "icd11.foundation:413985102" ], "synonyms": [ "ECO syndrome", "ECO", "endocrine-CEREBROOSTEODYSPLASIA" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality." }, "child_count": 0, "reference_id": "MONDO:0012980" }, { "id": 14952, "label": "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6893 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016902", "MEDGEN:766872", "OMIM:614875", "Orphanet:99646", "UMLS:C3553958", "icd11.foundation:1777127218" ], "synonyms": [ "MC-HGA", "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria", "metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria", "metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria", "spondyloenchondromatosis with D-2-hydroxyglutaric aciduria" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay." }, "child_count": 0, "reference_id": "MONDO:0013941" }, { "id": 15172, "label": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "isLeaf": true, "isRoot": false, "parents": [ 6893, 16198, 17977, 23985 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080140", "GARD:0017584", "MEDGEN:815686", "MESH:C566367", "OMIM:603530", "OMIM:615398", "Orphanet:369837", "UMLS:C3809356" ], "synonyms": [ "LFSS", "MCAHS type 3", "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability", "PIGT-CDG", "congenital disorder of glycosylation due to PIGT deficiency", "multiple congenital anomalies-hypotonia-seizures syndrome 3", "multiple congenital anomalies-hypotonia-seizures syndrome type 3", "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT", "M syndrome", "MCAHS3", "glycosylphosphatidylinositol biosynthesis defect 7", "intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase." }, "child_count": 0, "reference_id": "MONDO:0014165" }, { "id": 15267, "label": "Rienhoff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6893, 18876 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070236", "EFO:1000012", "GARD:0012356", "MEDGEN:816342", "OMIM:615582", "UMLS:C3810012" ], "synonyms": [ "Loeys-Dietz syndrome type 5", "Rienhoff syndrome", "LDS5", "Loeys-Dietz syndrome 5" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection." }, "child_count": 0, "reference_id": "MONDO:0014262" }, { "id": 16295, "label": "Coffin-Siris syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5714, 6893, 16087 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1925", "GARD:0006124", "ICD9:759.89", "MEDGEN:75565", "MESH:C536436", "NANDO:1200670", "NANDO:2200977", "NCIT:C35321", "NORD:984", "OMIMPS:135900", "Orphanet:1465", "SCTID:10007009", "UMLS:C0265338", "icd11.foundation:734451870" ], "synonyms": [ "CSS", "Coffin-Siris syndrome", "intellectual disability with absent fifth fingernail and terminal phalanx" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations." }, "child_count": 44, "reference_id": "MONDO:0015452" }, { "id": 18251, "label": "microcephaly-brachydactyly-kyphoscoliosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 6893, 16087, 18956 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005490", "MEDGEN:419731", "MESH:C536349", "Orphanet:3433", "SCTID:719378009", "UMLS:C2931177" ], "synonyms": [ "Viljoen-Kallis-Voges syndrome", "Viljoen Kallis Voges syndrome", "microcephaly brachydactyly kyphoscoliosis", "microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait." }, "child_count": 0, "reference_id": "MONDO:0018091" }, { "id": 20180, "label": "cartilage development disorder", "isLeaf": true, "isRoot": false, "parents": [ 6893, 20383 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006051", "ICD9:756.4", "ICD9:756.9", "MEDGEN:935", "NCIT:C34466", "SCTID:67988000", "UMLS:C0008449" ], "synonyms": [ "cartilage development disorder", "chondrodystrophy", "Congenital anomaly of cartilage", "abnormal development of cartilage" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any dysfunction in the growth of cartilage." }, "child_count": 0, "reference_id": "MONDO:0020779" }, { "id": 20258, "label": "syndactyly", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6893, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11193", "HP:0001159", "ICD10CM:Q70", "ICD9:755.1", "MEDGEN:52619", "MESH:D013576", "MedDRA:10042778", "UMLS:C0039075" ], "synonyms": [ "syndactyly (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." }, "child_count": 6, "reference_id": "MONDO:0021002" }, { "id": 20259, "label": "polydactyly", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6893, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1148", "HP:0010442", "ICD10CM:Q69", "ICD10WHO:Q69", "ICD9:755.0", "ICD9:755.00", "MEDGEN:57774", "MESH:D017689", "MedDRA:10036063", "NCIT:C87110", "OMIM:603596", "SCTID:367506006", "UMLS:C0152427" ], "synonyms": [ "hyperdactyly", "polydactylism", "polydactyly", "polydactyly (disease)", "postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms." }, "child_count": 6, "reference_id": "MONDO:0021003" }, { "id": 20260, "label": "brachydactyly", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6893, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050581", "HP:0001156", "MEDGEN:67454", "MESH:D059327", "SCTID:43476002", "UMLS:C0221357", "icd11.foundation:598200019" ], "synonyms": [ "brachydactyly", "brachydactyly (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." }, "child_count": 66, "reference_id": "MONDO:0021004" }, { "id": 20675, "label": "sternal neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 6893, 20518 ], "type_id": 0, "properties": { "xrefs": [ "ICD9:239.2", "MEDGEN:226935", "NCIT:C6730", "SCTID:126559003", "UMLS:C1290244" ], "synonyms": [ "neoplasm of sternum", "neoplasm of sternum (disease)", "neoplasm of sternum (disorder)", "neoplasm of the sternum", "sternal neoplasm", "sternal tumor", "sternal tumour", "sternum neoplasm", "sternum neoplasm (disease)", "sternum tumor", "sternum tumour", "tumor of sternum", "tumor of the sternum", "tumour of sternum", "tumour of the sternum" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A benign or malignant neoplasm that affects the sternum." }, "child_count": 4, "reference_id": "MONDO:0021578" }, { "id": 22375, "label": "short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis", "isLeaf": true, "isRoot": false, "parents": [ 5714, 6893 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025723", "MEDGEN:1676818", "OMIM:618363", "UMLS:C5193055" ], "synonyms": [ "SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS", "SSASKS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032703" }, { "id": 23504, "label": "skeletal ligament disorder", "isLeaf": false, "isRoot": false, "parents": [ 6893, 23530 ], "type_id": 0, "properties": { "synonyms": [ "disease of skeletal ligament", "disease or disorder of skeletal ligament", "disorder of skeletal ligament", "skeletal ligament disease or disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease or disorder that involves the skeletal ligament." }, "child_count": 2, "reference_id": "MONDO:0045004" }, { "id": 24936, "label": "brachydactyly-syndactyly-oligodactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6893 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:934774", "UMLS:C4310807" ], "synonyms": [ "BDSDO" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800344" } ], "roots": [ { "id": 4222, "label": "musculoskeletal system disorder" } ] }