{ "id": 3140, "label": "vertebral column disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0000812", "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." }, "isLeaf": false, "isRoot": false, "child_count": 15, "parents": [ { "id": 6893, "label": "skeletal system disorder", "isLeaf": false, "isRoot": false, "parents": [ 4222 ], "type_id": 0, "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." }, "child_count": 48, "reference_id": "MONDO:0005172" } ], "children": [ { "id": 2864, "label": "spondylocostal dysostosis", "isLeaf": false, "isRoot": false, "parents": [ 3140, 5714, 18362 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050568", "GARD:0012174", "MEDGEN:82707", "MESH:C537565", "NCIT:C125598", "NORD:1308", "OMIMPS:277300", "UMLS:C0265343" ], "synonyms": [ "Spondylocostal Dysplasia", "costovertebral dysplasia", "spondylocostal dysostosis", "spondylocostal dysplasia", "Jarcho-Levin syndrome", "SCD", "SCDO" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)." }, "child_count": 12, "reference_id": "MONDO:0000359" }, { "id": 2969, "label": "sacrum chordoma", "isLeaf": true, "isRoot": false, "parents": [ 3140, 4904 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050900", "GARD:0022787", "MEDGEN:756688", "NCIT:C129927", "SCTID:447730004", "UMLS:C3164279" ], "synonyms": [ "chordoma (disease) of fused sacrum", "fused sacrum chordoma (disease)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A chordoma (disease) that involves the fused sacrum." }, "child_count": 0, "reference_id": "MONDO:0000518" }, { "id": 4752, "label": "epidural spinal canal neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 3140, 6798 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3618", "MEDGEN:4504", "MESH:D015174", "NCIT:C3019", "UMLS:C0014536" ], "synonyms": [ "epidural neoplasm", "epidural space neoplasm", "epidural space tumor", "epidural space tumour", "epidural spinal canal tumor", "epidural spinal canal tumors", "epidural spinal canal tumour", "epidural spinal canal tumours", "epidural spinal neoplasms", "epidural spinal tumors", "epidural spinal tumours", "epidural tumor", "epidural tumour", "extradural neoplasm", "extradural spinal canal neoplasm", "extradural spinal canal neoplasms", "extradural spinal canal tumor", "extradural spinal canal tumour", "extradural spinal neoplasms", "extradural spinal tumors", "extradural spinal tumours", "extradural tumour", "neoplasm of epidural space", "neoplasm of epidural spinal canal", "neoplasm of extradural spinal canal", "neoplasm of the epidural spinal canal", "neoplasm of the extradural spinal canal", "tumor of epidural space", "tumor of epidural spinal canal", "tumor of extradural spinal canal", "tumor of the epidural spinal canal", "tumor of the extradural spinal canal", "tumour of epidural space", "tumour of epidural spinal canal", "tumour of extradural spinal canal", "tumour of the epidural spinal canal", "tumour of the extradural spinal canal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord." }, "child_count": 4, "reference_id": "MONDO:0002713" }, { "id": 5814, "label": "Baastrup syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3140, 7061 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6643", "ICD10CM:M48.2", "ICD9:721.5", "MEDGEN:510482", "SCTID:82304009", "UMLS:C0158248" ], "synonyms": [ "Baastrup's syndrome", "kissing spine" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0003956" }, { "id": 5913, "label": "lumbosacral lipoma", "isLeaf": true, "isRoot": false, "parents": [ 3140, 6833 ], "type_id": 0, "properties": { "xrefs": [ "DOID:7017", "MEDGEN:232708", "NCIT:C6500", "UMLS:C1334438" ], "synonyms": [ "lipoma of sacral region of vertebral column", "sacral region of vertebral column lipoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" } ], "definition": "A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine." }, "child_count": 0, "reference_id": "MONDO:0004077" }, { "id": 7557, "label": "spinal stenosis", "isLeaf": false, "isRoot": false, "parents": [ 3140, 3152 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6725", "EFO:0007490", "HP:0003416", "ICD10CM:M48.0", "ICD9:723.0", "ICD9:724.00", "ICD9:724.09", "MEDGEN:396107", "MESH:D013130", "NANDO:1200372", "NCIT:C177444", "SCTID:76107001", "UMLS:C1861329", "icd11.foundation:1847895828" ], "synonyms": [ "cervical spinal stenosis", "lumbar spinal stenosis", "spinal stenosis of lumbar region" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Narrowing of the spinal canal." }, "child_count": 2, "reference_id": "MONDO:0005965" }, { "id": 12492, "label": "intervertebral disk degenerative disorder", "isLeaf": false, "isRoot": false, "parents": [ 3140, 5714 ], "type_id": 0, "properties": { "xrefs": [ "DOID:90", "EFO:0004994", "ICD9:722.6", "MEDGEN:102357", "MESH:D055959", "NCIT:C26983", "OMIM:603932", "SCTID:77547008", "UMLS:C0158266" ], "synonyms": [ "IDD", "degenerative disk disease", "degenerative disorder of intervertebral disc", "degenerative disorder of intervertebral disk", "intervertebral Disc Degeneration", "intervertebral Disc degenerative disease", "intervertebral Disc degenerative disorder", "intervertebral disc degeneration", "intervertebral disc disease", "intervertebral disk degeneration", "intervertebral disk degenerative disorder", "intervertebral disk disease", "vertebral Disc degenerative disease", "vertebral Disc degenerative disorder", "vertebral disk disease", "cervical disc degenerative disease", "cervical disk degenerative disease", "lumbar disc degeneration", "lumbar disk degeneration" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any disease of a degenerative nature that affects the intervertebral disk." }, "child_count": 6, "reference_id": "MONDO:0011385" }, { "id": 20993, "label": "coccygodynia", "isLeaf": true, "isRoot": false, "parents": [ 3140, 24453 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:507576", "UMLS:C0009193", "icd11.foundation:718979238" ], "synonyms": [ "coccydynia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare pain disorder characterized by pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more common causes are direct falls and injury." }, "child_count": 0, "reference_id": "MONDO:0022792" }, { "id": 22983, "label": "vertebral joint disorder", "isLeaf": false, "isRoot": false, "parents": [ 3140, 8264 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009477", "MEDGEN:1853166", "SCTID:372109003", "UMLS:C0541407" ], "synonyms": [ "disease of intervertebral joint", "disease or disorder of intervertebral joint", "disorder of intervertebral joint", "disorder of joint of spine", "intervertebral joint disease", "intervertebral joint disease or disorder", "spondyloarthropathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease that involves the intervertebral joint." }, "child_count": 4, "reference_id": "MONDO:0037847" }, { "id": 23082, "label": "sacrococcygeal teratoma", "isLeaf": true, "isRoot": false, "parents": [ 3140, 4656 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000319", "HP:0030736", "MEDGEN:107852", "NANDO:2100216", "NANDO:2200816", "NANDO:2201287", "NCIT:C99055", "NORD:1685", "Orphanet:494421", "SCTID:281561000", "UMLS:C0559459" ], "synonyms": [ "pre-sacral teratoma", "presacral teratoma", "sacrococcygeal teratoma" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns." }, "child_count": 0, "reference_id": "MONDO:0042727" }, { "id": 23251, "label": "spinal cord injury", "isLeaf": true, "isRoot": false, "parents": [ 3140, 4611, 22977, 23420 ], "type_id": 0, "properties": { "xrefs": [ "MESH:D013119", "Orphanet:90058", "SCTID:90584004" ], "synonyms": [ "injury of spinal cord", "spinal cord injury", "Contusions, spinal cord", "Injuries, spinal cord", "Lacerations, spinal cord", "Myelopathies, post-traumatic", "Myelopathies, traumatic", "Transections, spinal cord", "Traumas, spinal cord", "contusion, spinal cord", "cord Contusions, spinal", "cord Injuries, spinal", "cord Lacerations, spinal", "cord Transections, spinal", "cord Traumas, spinal", "cord contusion, spinal", "cord injury, spinal", "cord laceration, spinal", "cord transection, spinal", "cord trauma, spinal", "injury, spinal cord", "laceration, spinal cord", "myelopathy, post-traumatic", "myelopathy, traumatic", "post traumatic myelopathy", "post-traumatic Myelopathies", "post-traumatic myelopathy", "spinal cord Contusions", "spinal cord Lacerations", "spinal cord Transections", "spinal cord Traumas", "spinal cord contusion", "spinal cord laceration", "spinal cord transection", "spinal cord trauma", "transection, spinal cord", "trauma, spinal cord", "traumatic Myelopathies", "traumatic myelopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." }, "child_count": 0, "reference_id": "MONDO:0043797" }, { "id": 23252, "label": "tuberculosis, spinal", "isLeaf": true, "isRoot": false, "parents": [ 3140, 7554 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025869", "MEDGEN:11948", "MESH:D014399", "NCIT:C35087", "SCTID:35984006", "UMLS:C0041330" ], "synonyms": [ "pott disease", "pott's disease", "tuberculosis of vertebral column", "Potts disease", "Tuberculoses, spinal", "disease, pott", "disease, pott's", "pott's paraplegia", "spinal Tuberculoses", "spinal tuberculosis", "tuberculosis of spine (pott's)", "tuberculosis of vertebral column - pott's", "tuberculous spondylitis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Tuberculosis of the vertebrae." }, "child_count": 0, "reference_id": "MONDO:0043836" }, { "id": 23502, "label": "vertebral disorder", "isLeaf": false, "isRoot": false, "parents": [ 3140 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:747221", "SCTID:430886005", "UMLS:C2316319" ], "synonyms": [ "disease of vertebra", "disease or disorder of vertebra", "disorder of vertebra", "vertebra disease", "vertebra disease or disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease or disorder that involves the vertebra." }, "child_count": 3, "reference_id": "MONDO:0045002" }, { "id": 23942, "label": "lumbar disk disease", "isLeaf": true, "isRoot": false, "parents": [ 3140 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:67462", "UMLS:C0221775" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A vertebral column disorder caused by degeneration of intervertebral disks of the lumbar spine. One of the most common musculoskeletal disorders, it has strong genetic determinants." }, "child_count": 0, "reference_id": "MONDO:0100201" }, { "id": 25248, "label": "dropped head syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3140 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060034", "MEDGEN:757938", "UMLS:C3266164" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles." }, "child_count": 0, "reference_id": "MONDO:0858910" } ], "roots": [ { "id": 6893, "label": "skeletal system disorder" } ] }