{ "id": 3525, "label": "autonomic nervous system disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0001292", "properties": { "xrefs": [ "DOID:11465", "EFO:0009532", "ICD9:337.1", "ICD9:337.9", "MEDGEN:218837", "MESH:D001342", "SCTID:128123007", "SCTID:15241006", "UMLS:C1145628", "icd11.foundation:1397803237" ], "synonyms": [ "autonomic nervous disease", "autonomic nervous system disease", "autonomic nervous system disease or disorder", "disease of autonomic nervous system", "disease or disorder of autonomic nervous system", "disorder of autonomic nervous system", "disorder of peripheral autonomic nervous system", "disorder of the autonomic nervous system", "autonomic peripheral nervous system diseases", "dysautonomia", "peripheral autonomic nervous system diseases", "ANS (autonomic nervous system) diseases", "ANS disease", "ANS diseases", "autonomic central nervous system diseases", "autonomic disease", "autonomic diseases", "autonomic dysfunction, segmental", "autonomic dysfunctions, segmental", "autonomic nervous system disorders", "central autonomic nervous system diseases", "disorders of the autonomic nervous system", "nervous system diseases, autonomic", "nervous system diseases, sympathetic", "segmental autonomic dysfunction", "segmental autonomic dysfunctions" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the autonomic nervous system." }, "isLeaf": false, "isRoot": false, "child_count": 13, "parents": [ { "id": 4657, "label": "central nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:331", "EFO:0009386", "MEDGEN:892343", "MESH:D002493", "NCIT:C2934", "SCTID:23853001", "UMLS:C4021765" ], "synonyms": [ "CNS disorder", "central nervous disease", "central nervous system disease", "central nervous system disease or disorder", "central nervous system disorder", "disease of central nervous system", "disease of the central nervous system", "disease or disorder of central nervous system", "disorder of central nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the central nervous system." }, "child_count": 19, "reference_id": "MONDO:0002602" }, { "id": 5512, "label": "peripheral nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:574", "EFO:0009387", "ICD9:350-359", "ICD9:356.9", "MEDGEN:892389", "MESH:D010523", "NCIT:C27580", "SCTID:42658009", "UMLS:C4025831" ], "synonyms": [ "PNS (peripheral nervous system) diseases", "PNS disease", "PNS diseases", "disease of peripheral nervous system", "disease or disorder of peripheral nervous system", "disorder of peripheral nervous system", "disorder of the peripheral nervous system", "peripheral nervous system disease", "peripheral nervous system disease or disorder", "peripheral nervous system disorder", "peripheral nervous system disorders", "nerve disease, peripheral", "nerve diseases, peripheral", "neuropathy, peripheral", "peripheral Neuropathies", "peripheral nerve disease", "peripheral nerve diseases", "peripheral neuropathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease involving the peripheral nervous system." }, "child_count": 18, "reference_id": "MONDO:0003620" } ], "children": [ { "id": 3528, "label": "idiopathic peripheral autonomic neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 3525, 24405 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11488", "ICD10CM:G90.0", "ICD9:337.0", "ICD9:337.00", "MEDGEN:509630", "SCTID:86489003", "UMLS:C0154690", "icd11.foundation:1422269907" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0001295" }, { "id": 3533, "label": "autonomic neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 3525, 6950 ], "type_id": 0, "properties": { "xrefs": [ "CSP:2042-2001", "CSP:2049-9000", "DOID:0060054", "DOID:11504", "MEDGEN:82621", "NCIT:C27033", "SCTID:277879009", "UMLS:C0259749" ], "synonyms": [ "autonomic nervous system peripheral neuropathy", "autonomic peripheral neuropathy", "peripheral neuropathy of autonomic nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." }, "child_count": 4, "reference_id": "MONDO:0001300" }, { "id": 4464, "label": "autonomic nervous system neoplasm", "isLeaf": false, "isRoot": false, "parents": [ 3525, 3627, 7694 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2621", "MEDGEN:231389", "NCIT:C5112", "UMLS:C1332356" ], "synonyms": [ "autonomic nervous system neoplasm", "autonomic nervous system neoplasm (disease)", "autonomic nervous system neoplasms", "autonomic nervous system tumor", "autonomic nervous system tumour", "neoplasm of autonomic nervous system", "neoplasm of the autonomic nervous system", "tumor of autonomic nervous system", "tumor of the autonomic nervous system", "tumour of autonomic nervous system", "tumour of the autonomic nervous system" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system." }, "child_count": 9, "reference_id": "MONDO:0002366" }, { "id": 9103, "label": "Frey syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3525, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11599", "EFO:1000940", "GARD:0027052", "MEDGEN:21041", "MESH:D013547", "OMIM:144100", "Orphanet:662240", "SCTID:238758008", "UMLS:C0038994" ], "synonyms": [ "Baillarger syndrome", "Frey syndrome", "gustatory hyperhidrosis", "gustatory sweating", "Frey's syndrome", "HYPRG", "auriculotemporal nerve syndrome", "hyperhidrosis gustatory", "hyperhidrosis, gustatory" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)" }, "child_count": 0, "reference_id": "MONDO:0007753" }, { "id": 16676, "label": "harlequin syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3525 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008610", "ICD9:705.89", "MEDGEN:384475", "MESH:C535634", "Orphanet:199282", "SCTID:14070001000004105", "UMLS:C2029348" ], "synonyms": [ "progressive isolated segmental anhidrosis", "sudden onset of unilateral flushing and sweating", "unilateral loss of facial flushing and sweating with contralateral anhidrosis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." }, "child_count": 0, "reference_id": "MONDO:0016040" }, { "id": 18427, "label": "chronic hiccup", "isLeaf": true, "isRoot": false, "parents": [ 3525 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0006657", "HP:0100247", "MEDGEN:900733", "NORD:1242", "Orphanet:396", "SCTID:716771000", "UMLS:C0744898", "icd11.foundation:1300687612" ], "synonyms": [ "Hiccups, Chronic", "Hiccups, intractable", "chronic hiccups", "intractable hiccups", "intractable singultus", "persistent hiccups" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours." }, "child_count": 0, "reference_id": "MONDO:0018334" }, { "id": 18610, "label": "pure autonomic failure", "isLeaf": true, "isRoot": false, "parents": [ 3525, 9146 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010428", "MEDGEN:98293", "MESH:D054970", "NORD:1948", "Orphanet:441", "SCTID:84438001", "UMLS:C0393911", "icd11.foundation:734022291" ], "synonyms": [ "Bradbury Eggleston syndrome", "Bradbury-Eggleston syndrome", "PAF", "Pure dysautonomia", "Pure idiopatic dysautonomia", "idiopathic orthostatic hypotension", "idiopathic orthostatic hypotension (a symptom)", "orthostatic hypotension (a symptom)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension." }, "child_count": 0, "reference_id": "MONDO:0018608" }, { "id": 18618, "label": "baroreflex failure", "isLeaf": true, "isRoot": false, "parents": [ 3525 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010664", "MEDGEN:742620", "Orphanet:443084", "UMLS:C1959798", "icd11.foundation:880662615" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques." }, "child_count": 0, "reference_id": "MONDO:0018617" }, { "id": 23267, "label": "autonomic dysreflexia", "isLeaf": true, "isRoot": false, "parents": [ 3525 ], "type_id": 0, "properties": { "xrefs": [ "ICD10CM:G90.4", "MEDGEN:66758", "MESH:D020211", "SCTID:129618003", "UMLS:C0238015", "icd11.foundation:1401282234" ], "synonyms": [ "autonomic dysreflexia", "Dysreflexia, autonomic", "Dysreflexia, spinal autonomic", "Dysreflexias, autonomic", "Dysreflexias, spinal autonomic", "autonomic Dysreflexia, spinal", "autonomic Dysreflexias", "autonomic Dysreflexias, spinal", "autonomic Hyperreflexias", "autonomic hyperreflexia", "dysreflexia", "hyperreflexia, autonomic", "hyperreflexias, autonomic", "spinal autonomic Dysreflexia", "spinal autonomic Dysreflexias" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" }, "child_count": 0, "reference_id": "MONDO:0043975" }, { "id": 23459, "label": "dysautonomia", "isLeaf": false, "isRoot": false, "parents": [ 3525 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:8511", "NCIT:C53439", "UMLS:C0013363" ], "synonyms": [ "dysautonomia" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis." }, "child_count": 1, "reference_id": "MONDO:0044872" }, { "id": 23497, "label": "sympathetic nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 3525 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:148206", "SCTID:50330009", "UMLS:C0750946" ], "synonyms": [ "disease of sympathetic nervous system", "disease or disorder of sympathetic nervous system", "disorder of sympathetic nervous system", "sympathetic nervous system disease", "sympathetic nervous system disease or disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease or disorder that involves the sympathetic nervous system." }, "child_count": 2, "reference_id": "MONDO:0044993" }, { "id": 23498, "label": "parasympathetic nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 3525 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:148205", "SCTID:46091002", "UMLS:C0750945" ], "synonyms": [ "disease of parasympathetic nervous system", "disease or disorder of parasympathetic nervous system", "disorder of parasympathetic nervous system", "parasympathetic nervous system disease", "parasympathetic nervous system disease or disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A disease or disorder that involves the parasympathetic nervous system." }, "child_count": 1, "reference_id": "MONDO:0044995" }, { "id": 24781, "label": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease", "isLeaf": true, "isRoot": false, "parents": [ 3525, 4370, 4427, 20691, 24270, 24785 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060731", "GARD:0008535", "MEDGEN:1794285", "MedDRA:10007982", "MedDRA:10066131", "NCIT:C98889", "OMIM:209880", "Orphanet:661", "SCTID:230499002", "UMLS:C5562075", "icd11.foundation:1750742010" ], "synonyms": [ "CCHS", "Ondine curse", "Ondine curse, congenital", "Ondine syndrome", "autonomic control, congenital failure of", "congenital Ondine curse", "congenital central alveolar hypoventilation syndrome", "congenital central hypoventilation", "congenital central hypoventilation syndrome", "CCHS with Hirschsprung disease", "Haddad syndrome", "Ondine curse (formerly)", "Ondine's curse (formerly)", "Ondine-Hirschsprung disease", "central hypoventilation syndrome, congenital", "congenital failure of autonomic control", "idiopathic congenital central alveolar hypoventilation", "primary alveolar hypoventilation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients." }, "child_count": 0, "reference_id": "MONDO:0800026" } ], "roots": [ { "id": 4657, "label": "central nervous system disorder" }, { "id": 5512, "label": "peripheral nervous system disorder" } ] }