Jessica Turner Carol Bean next ID: birnlex_12832 The BIRN project lexicon v1.3.1 - moved disease from BIRNLex-Other to to this stand-alone module. (BB: 2007-10-05) This ontology contains the former BIRNLex-Disease, version 1.3.2. -- The BIRN Project lexicon will provide entities for data and database annotation for the BIRN project, covering anatomy, disease, data collection, project management and experimental design. It is built using the organizational framework provided by the foundational Basic Formal Ontology (BFO). It uses an abstract biomedical layer on top of that - OBO-UBO which has been constructed as a proposal to the OBO Foundry. This is meant to support creating a sharable view of core biomedical objects such as biomaterial_entity, and organismal_entity that all biomedical ontologies are likely to need and want to use with the same intended meaning. The BIRNLex biomaterial entities have already been factored to separately maintained ontology - BIRNLexBiomaterialEntity.owl which this BIRNLex-Main.owl file imports. The Ontology of Biomedical Investigation (OBI) is also imported and forms the foundation for the formal description of all experiment-related artifacts. The BIRNLex will serve as the basis for construction of a formal ontology for the multiscale investigation of neurological disease. Maryann Martone ID use: 2086, 2104; 12500 - 12831 The BIRN Ontology Task Force Using birnlex IDs starting with 12500. David Kennedy v1.3.2 - moved neuro diseases under Nervous system disease class and added eye and multisystem diseases (BB: 2007-11-18). Jeff Grethe Fahim Imam NIF-Dysfunction (formally BIRNLex-Disease) 1.3.3 Christine Fennema-Notestine Amarnath Gupta en v1.3.3 - added all three variants as synonyms for the disease names (or their synonyms) with (or sometimes without) an apostrophe (’s), e.g., “Batten disease”, “Batten’s disease” and “Battens disease” are kept as synonymous terms. (Fahim Imam: April 14, 2009) Bill Bug 2007-10-08 A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture (MeSH) Catatonic Schizophrenia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Catatonic Schizophrenia D012560 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner Maryann Martone February 17, 2010 NIHID intranuclear inclusion body disease neuronal intranuclear inclusion disease Neuronal intranuclear hyaline inclusion disease Neuronal intranuclear hyaline inclusion disease is a rare neurodegenerative disease characterized pathologically by the presence of eosinophilic intranuclear inclusions in neuronal cells Neurilemmoma Schwannoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Neurilemmosarcoma http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D009442 2007-10-05 A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Neurilemmoma Neurilemoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Neurinoma May be benign or malignant. DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5 Drug Addiction Substance-Related Disorder Drug Dependence Drug Abuse Substance Use Disorder Disorder related to substance abuse, the side effects of a medication, toxin exposure, and ALCOHOL-RELATED DISORDERS (MeSH). Substance Abuse Drug Usage March 18, 2009 Glue Sniffing Drug Habituation http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Substance-Induced Organic Mental Disorder Substance-Related Disorder Addiction Drug Use Disorder Substance Dependence http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D019966 2007-10-08 Substance Addiction http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug _8.3_11.1 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH MeSH includes the following entry terms that are either implied sub-types or components of the overall spectrum of functional manifestations of Substance-Related Disorder Adams et al., Principles of Neurology, 6th ed, p90 Cerebellar Ataxia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Adiadochokinesis Dysmetria D002524 Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA (MeSH). Cerebellar Dysmetria Cerebellar Hemiataxia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Cerebellar Ataxia Cerebellar Incoordination 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.strokecenter.org/prof/syndromes/syndromePage9.htm Lateral Bulbar syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D014854 Vieseaux-Wallenberg Syndrome Posterior Inferior Cerebellar Artery Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Wallenberg Syndrome Infarction of the dorsolateral aspect of the medulla due to occlusion of the vertebral artery and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS (MeSH) Lateral medullary syndrome Wallenberg Syndrome 2007-10-08 Dorsolateral Medullary Syndrome Sporadic Retinoblastoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D012175 Sporadic Retinoblastoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource X chromosome recessive disorder, found nearly exclusively in males and becoming apparent around puberty. Characterized initially by a cystlike structure involving the FOVEA CENTRALIS, a peripheral retinoschisis occurs in about half the patients. X-Linked Retinoschisis C0271091 2007-11-18 X-Linked Retinoschisis Juvenile retinoschisis http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Retinoschisis disorder D041441 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D005729 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Ganglioneuroma 2007-10-05 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Gangliocytoma Ganglioneuroma A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D018458 Minimally Conscious State http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Minimally Conscious State 2007-10-08 _8.3_17.1 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Familial Creutzfeldt-Jakob Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource A familial form exhibiting autosomal dominant inheritance has been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS (MeSH). 2007-10-05 2007-10-05 N Engl J Med, 1998 Dec 31;339(27) Familial Creutzfeldt-Jakob Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D007562 Sudden acquired retinal degeneration Sudden acquired retinal degeneration disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated C0521690 2007-11-18 Sudden acquired retinal degeneration 2007-11-18 Do not confuse with MYOKYMIA or ISAACS SYNDROME http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 Hyperkinesis Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders (MeSH). Motor Hyperactivity Hyperkinesia Hyperkinesis Hyperkinetic Movements http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D006948 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Generalized Hyperkinesia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Heroin-Related Disorder D006556 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Heroin Dependence Heroin Abuse Heroin Addiction 2007-10-08 Heroin-Related Disorder 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Heroin Usage MeSH includes implied components of the overall spectrum of functional manifestations of Opioid-Related Disorder Disorders related or resulting from abuse or mis-use of heroin. 2007-10-05 2007-10-05 _8.3_9.2 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Lambert-Eaton's Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Eaton-Lambert Myasthenic Syndrome Myasthenic-Myopathic Syndrome of Eaton-Lambert Myasthenic-Myopathic Syndrome of Lambert-Eaton http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D015624 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Eaton-Lambert Syndrome http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve (MeSH). Lambert-Eaton Myasthenic Syndrome Lambert-Eaton Syndrome Lambert-Eaton Myasthenic Syndrome Adams et al., Principles of Neurology, 6th ed, pp 1471 MeSH includes qualified subtypes based on the severity, invasiveness, or gross anatomical location of the head injury Craniocerebral Injury Frontal Region Trauma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Temporal Region Trauma 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Minor Head Injury Occipital Region Trauma Craniocerebral Trauma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Craniocerebral Trauma Superficial Head Injury Forehead Trauma Parietal Region Trauma Head Injury Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage (MeSH). Multiple Head Injury Head Trauma D006259 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Crushing Skull Injury Open Head Injury C0154854 2007-11-18 2007-11-18 Cobblestone retinal degeneration Paving stone retinal degeneration Paving stone retinal degeneration http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated MERRF Syndrome Myoclonic Epilepsy with Ragged Red Fibers Adams et al., Principles of Neurology, 6th ed, p986 Fukuhara Disease Fukuhara Syndrome A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects (MeSH). 2007-10-08 Myoclonic Epilepsy and Ragged Red Fibers http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource MERRF Syndrome 2007-10-08 D017243 _8.3_2.12 D013494 Progressive Supranuclear Palsy A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Steele-Richardson-Olszewski Syndrome 2007-10-08 Steele-Richardson-Olszewski Disease Progressive Supranuclear Ophthalmoplegia Progressive Supranuclear Palsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource War Neurosis http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Combat Neurosis http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 Combat Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Neurotic reactions to unusual, severe, or overwhelming military stress (MeSH). Combat Disorder D003130 Paranoia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Psychosis D010259 Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state. (MeSH) http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner Paranoid Disorder Paranoid Disorder Paranoid Psychosis 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Adams et al., Principles of Neurology, 6th ed, p1016 Neurofibroma May be benign or malignant. D009455 A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Neurofibroma http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D005910 2007-10-05 _8.3_10.1.1 Glioma 2007-10-05 Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Glial Cell Tumor http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21 Glioma Disorganized Schizophrenia A type of schizophrenia characterized by frequent incoherence; marked loosening of associations, or grossly disorganized behavior and flat or grossly inappropriate affect that does not meet the criteria for the catatonic type; associated features include extreme social withdrawal, grimacing, mannerisms, mirror gazing, inappropriate giggling, and other odd behavior (MeSH) http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS D012562 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Dorland, 27th ed http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner Hebephrenic Schizophrenia 2007-10-08 Disorganized Schizophrenia 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Spinocerebellar Atrophy Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia Type 6 A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH). http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm Spinocerebellar Ataxia Dominantly-Inherited Spinocerebellar Ataxia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 D020754 Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 4 MeSH includes qualified subtypes Spinocerebellar Ataxia Type 1 Senile retinoschisis http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Peripheral retinoschisis Bullous retinoschisis RS http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D041441 C0152439 A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis. 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Retinoschisis Schisis of retina Breaks in retinoschisis Retinoschisis Macular retinoschisis 2007-11-18 Diffuse peripheral retinoschisis Retinoschisis inner leaf break Macular and peripheral retinoschisis Retinoschisis outer leaf break Retinoschisis disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Flat retinoschisis Dyskinesia Ballismus _8.3_2.3 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Involuntary Movements Abnormal Movements Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES (MeSH). Hemiballismus Dyskinesia Asterixis 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource May need to create a "malfunction" dependent_continuant or disposition to accomodate most of the Dyskinesias which are more functional presenting signs in a complex disease process than a disease in and of themselves (BB:2007-10-05). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Hemiballism http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. D020820 2007-10-05 _8.3_8 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 D009135 Acquired, familial, and congenital disorders of skeletal muscle ( MUSCLE, SKELETAL) and smooth muscle ( MUSCLE, SMOOTH) (MeSH). Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. Muscular Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Muscle Disorder Muscular Disease Myopathy Prion Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Prion Protein Disease 2007-10-05 _8.3_2.8 Prion Disease A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES (MeSH). Transmissible Spongiform Encephalopathy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Inherited Human Transmissible Spongiform Encephalopathy 2007-10-05 Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83 Transmissible Dementia Prion-Induced Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug MeSH includes qualified subtype limiting to humans D017096 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Jakob-Creutzfeldt Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH _8.3_2.8.1 2007-10-05 Creutzfeldt-Jakob Syndrome Jakob Creutzfeldt Disease D007562 A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS (MeSH). Jakob-Creutzfeldt Syndrome CJD http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Syndrome N Engl J Med, 1998 Dec 31;339(27) April 11, 2009 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Bradykinesia Hypokinesia 2007-10-05 MeSH includes qualified subtypes Hypodynamia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D018476 Hypokinesia Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions (MeSH). Antiorthostatic Hypokinesia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Morphine-Related Disorder MeSH includes implied components of the overall spectrum of functional manifestations of Morphine-Related Disorder Disorders related or resulting from abuse or mis-use of morphine. Morphine Usage http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 Morphine Dependence Morphine Abuse D009021 Morphine Addiction 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Morphine-Related Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Botulism http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Toxico-Infectious Botulism http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others) (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D001906 Botulism 2007-10-05 2007-10-05 Tauopathy Neurodegenerative disorders involving deposition of abnormal tau protein isoforms ( TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy ( SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D024801 Tauopathy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Traumatic Myelopathy Spinal Cord Contusion Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.) (MeSH). Spinal Cord Laceration Post-Traumatic Myelopathy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Spinal Cord Trauma 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D013119 Spinal Cord Transection MeSH includes qualified subtypes based on the severity or invasiveness of the spinal cord injury Spinal Cord Injury Spinal Cord Trauma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D020194 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Baltic Myoclonus Lundborg-Unverricht Syndrome Unverricht-Lundborg Syndrome Mediterranean Myoclonic Epilepsy Menkes, Textbook of Child Neurology, 5th ed, pp109-110 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland (MeSH). 2007-10-08 2007-10-08 Unverricht Disease Baltic Myoclonus Epilepsy Unverricht-Lundborg Syndrome 2007-10-05 Anxiety disorders manifested by the development of characteristic symptoms following a psychologically traumatic event that is outside the normal range of usual human experience. Symptoms include re-experiencing the traumatic event, increased arousal, and numbing of responsiveness to or reduced involvement with the external world. Traumatic stress disorders can be further classified by the time of onset and the duration of these symptoms (MeSH). Traumatic Stress Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Traumatic Stress Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Stress Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 D040921 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource KSS 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Mitochondrial ocular myopathy Kearns-Sayer Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS C0022541 Kearns-Sayre-Shy-Daroff Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Adams et al., Principles of Neurology, 6th ed, p984 Pigmentary degeneration of the retina plus heart block syndrome Kearns Syndrome Kearn-Sayre Mitochondrial Cytopathy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource D007625 A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy ( CARDIOMYOPATHIES) with conduction block ( HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. 2007-11-18 Kearns-Sayer Syndrome 2007-10-05 Ataxia Telangiectasia Ataxia Telangiectasia Syndrome Menkes, Textbook of Child Neurology, 5th ed, p688 Ataxia Telangiectasia An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23) (MeSH). http://www.ninds.nih.gov/disorders/a_t/a-t.htm 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Louis-Bar Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D001260 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Phobic Neurosis School Phobia 2007-10-05 D010698 Phobic Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Anxiety disorders in which the essential feature is persistent and irrational fear of a specific object, activity, or situation that the individual feels compelled to avoid. The individual recognizes the fear as excessive or unreasonable (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Social Phobia 2007-10-05 Phobia Claustrophobia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Phobic Disorder MeSH includes the following qualified subtypes based on the type of object or experience inducing the fear reaction: ; ; May be benign or malignant. http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Adams et al., Principles of Neurology, 6th ed, p1016 A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described (MeSH). D017253 2007-10-05 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Neurofibromatosis Syndrome Neurofibromatosis Neurofibromatosis Multiple Neurofibromas http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug April 11, 2009 Devic's Disease Devic Disease Neuromyelitis Optica 2007-10-05 Neuromyelitis Optica Devic Syndrome Devics Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Devic's Syndrome J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387 Devics Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D009471 A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months (MeSH). http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS 2007-10-08 D012563 Paranoid Schizophrenia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination (MeSH) Delusional Disorder 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner Paranoid Schizophrenia Syncope Carotid Sinus Syncope http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Cardiogenic Syncope Tussive Syncope Drop Attack Micturition Syncope Effort Syncope http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Situational Syncope Convulsive Syncope Adams et al., Principles of Neurology, 6th ed, pp367-9 Syncopal Vertigo D013575 Hyperventilation Syncope Syncopal Episode Postural Syncope 2007-10-08 Deglutitional Syncope Stokes-Adams Syncope Syncope http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource MeSH includes implied subtypes based mostly on cause A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope (MeSH). 2007-10-08 Retinoblastoma 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D012175 Retinoblastoma DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Retinal Glioblastoma 2007-10-05 Retinal Glioma Retinal Neuroblastoma A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Papillary Craniopharyngioma Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Papillary Craniopharyngioma D003397 Craniopharyngioma, Adult http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Paroxysmal Dystonia Muscle Dystonia 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p77 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Do not confuse with MUSCLE HYPERTONIA or MUSCLE HYPOTONIA; DYSTONIC DISORDERS is available http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Dystonia D004421 Diurnal Dystonia Limb Dystonia A persistent attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS (MeSH). MeSH includes qualified subtypes http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Dystonia 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug _8.3_11.1.3 Disorders related or resulting from use of amphetamines (MeSH). Cocaine-Related Disorder Cocaine Dependence Cocaine Usage Cocaine Abuse D019970 MeSH includes implied components of the overall spectrum of functional manifestations of Cocaine-Related Disorder 2007-10-08 2007-10-08 Cocaine-Related Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Cocaine Addiction http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Neonatal Abstinence Syndrome MeSH includes implied components of the overall spectrum of functional manifestations of Neonatal Abstinence Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D009357 Neonatal Passive Addiction 2007-10-08 Neonatal Substance Withdrawal 2007-10-08 Neonatal Withdrawal Syndrome Neonatal Abstinence Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Fetal and neonatal addiction and withdrawal as a result of the mother's dependence on drugs during pregnancy. Withdrawal or abstinence symptoms develop shortly after birth. Symptoms exhibited are loud, high-pitched crying, sweating, yawning and gastrointestinal disturbances (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Age-related macular degeneration 2007-11-18 SMD http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Senile macular degeneration AMD Senile macular degeneration of retina http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 Age-related macular degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated C0242383 ARMD Age related maculopathy Degeneration of macula and posterior pole http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource _8.3_11 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 Behavior Disorder 2007-10-05 Psychiatric Disorder Mental Disorder D001523 Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH). Mental Disorder Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Panic Attack 2007-10-05 Panic Disorder 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Panic Disorder D016584 Status Epilepticus Complex Partial Status Epilepticus Generalized Status Epilepticus http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Non-Convulsive Status Epilepticus Absence Status Grand Mal Status Epilepticus D013226 Simple Partial Status Epilepticus Generalized Convulsive Status Epilepticus Electrographic Status Epilepticus Subclinical Status Epilepticus MeSH includes implied subtypes Status Epilepticus Petit Mal Status A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 _8.3_5.3 N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Neuromuscular Transmission Disorders Neuromuscular Junction Diseases http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions (MeSH). 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D020511 2007-10-05 Neuromuscular Junction Disorders Neuromuscular Junction Diseases Abdominal Epilepsy Childhood Benign Occipital Epilepsy Occipital Lobe Epilepsy Partial Epilepsy Uncinate Seizures Amygdalo-Hippocampal Epilepsy 2007-10-08 Localization-Related Epilepsy Partial Seizure Disorder Childhood Benign Focal Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely (MeSH). Rhinencephalic Epilepsy Subclinical Seizures Focal Seizure Disorder Focal Epilepsy D004828 Digestive Epilepsy; Gelastic Epilepsy Partial Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Simple Partial Seizure Adams et al., Principles of Neurology, 6th ed, pp317 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Simple Partial Seizure, Consciousness Preserved http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated MeSH includes implied subtypes _8.3_5.1 Simple Partial Epilepsy 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Chronic Wasting Disease 2007-10-05 D034081 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein ( PRIONS) (MeSH). Chronic Wasting Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Parasympathetic Nervous System Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Parasympathetic Nervous System Disease D001342 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Usher syndrome type 3 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Usher syndrome type III 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 D052245 Usher's syndrome type III Usher syndrome type III C1568248 Folie a Deux Shared Paranoid Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner Shared Paranoid Disorder D012753 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 2007-10-08 A condition in which two closely related persons, usually in the same family, share the same delusions. (MeSH) Shared Psychotic Disorder Folie a Trois A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH). 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Tumor Royale Elephantiasis Neuromatosis Neurofibroma, Plexiform Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82 D018318 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Neurofibroma, Plexiform http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Pachydermatocele http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension (MeSH). Obsessive-Compulsive Disorder 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Obsessive-Compulsive Neurosis http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Obsessive-Compulsive Disorder D009771 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurally-Mediated Vasovagal Syncope Neurocardiogenic Syncope Neurogenic Syncope http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Vasodepressor Syncope 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 Vasovagal Syncope Neurally Mediated Faint Supine Syncope Malignant Neurocardiogenic Syncope D019462 Vasovagal Syncope Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Cerebral Syncope http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Remitting-Relapsing Multiple Sclerosis 2007-10-05 Relapsing-Remitting Multiple Sclerosis Adams et al., Principles of Neurology, 6th ed, pp903-914 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D020529 Acute Relapsing Multiple Sclerosis The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum (MeSH). Relapsing-Remitting Multiple Sclerosis 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Neuroepithelial Tumor http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neuroepithelial Neoplasm 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D018302 Neuroepithelial Neoplasm http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 D012175 Familial Retinoblastoma 2007-10-05 Hereditary Retinoblastoma Familial Retinoblastoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Disorders related or resulting from abuse or mis-use of opioids (MeSH). MeSH includes implied components of the overall spectrum of functional manifestations of Opioid-Related Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Narcotic Abuse Opiate Addiction Opioid-Related Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D009293 _8.3_11.1.5 2007-10-08 Narcotic Dependence 2007-10-08 Narcotic Addiction Opioid-Related Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Opiate Dependence Maculadegeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D008268 * degenerative changes in the macula lutea of the retina. (MSH) * deterioration of the macula lutea in the retina; may be inherited, drug induced, or due to aging; leads to a severe loss of central vision while peripheral vision is retained. (CSP) C0024437 Macular degeneration 2007-11-18 Macular degeneration http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource 2007-11-18 Psychogenic Torticollis Cervical Dystonia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Wryneck Spasmodic Torticollis D014103 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 2007-10-05 MeSH includes qualified subtypes Intermittent Torticollis A common form of DYSTONIA due to involuntary sustained or spasmodic, repetitive muscle contractions in the neck region. According to the position of the twisted neck and head, cervical dystonia can be categorized as torticollis, laterocollis, retrocollis, and a combination of these abnormal postures; A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors. (MeSH). Torticollis Torticollis 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH April 11, 2009 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D007562 Variant-Creutzfeldt-Jakob Disease Variant-Creutzfeldt-Jakob Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Variant-Creutzfeldt-Jakob's Disease V-CJD A new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) has been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS (MeSH). CJD Variant http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug New Variant Creutzfeldt-Jakob Disease Variant Creutzfeldt-Jakob Disease N Engl J Med, 1998 Dec 31;339(27) Hashish Abuse Marijuana Dependence Cannabis-Related Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 Cannabis Abuse Marijuana Abuse http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH MeSH includes implied components of the overall spectrum of functional manifestations of Cannabis-Related Disorder _8.3_11.1.2 Cannabis-Related Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cannabinoid Abuse 2007-10-08 The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning (MeSH). Cannabis Dependence D002189 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques (MeSH). Scrapie http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Rida D012608 2007-10-05 Scrapie http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D004828 Simple Partial Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 Simple Partial Seizure, Consciousness Preserved 2007-10-08 _8.3_5.1.1 Simple Partial Seizure Adams et al., Principles of Neurology, 6th ed, pp317 Simple Partial Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Hereditary Sensory Autonomic Neuropathy, Type 4 HSAN Type IV http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Hereditary Sensory Autonomic Neuropathy, Type 4 2007-10-05 HSN Type IV http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D009477 Neurofibromatosis Type 1 Neurofibromatosis 1 Neurofibromatosis I Neurofibromatosis Type I 2007-10-05 D009456 von Recklinghausen Disease Adams et al., Principles of Neurology, 6th ed, pp1014-18 Neurofibromatosis 1 Recklinghausen Disease of Nerve http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource NF1 2007-10-05 An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras ( RAS PROTEINS) (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Acute Stress Disorder 2007-10-05 Central Nervous System Mycosis MYCOSES of the brain, spinal cord, and meninges which may result in ENCEPHALITIS; MENINGITIS, FUNGAL; MYELITIS; BRAIN ABSCESS; and EPIDURAL ABSCESS. Certain types of fungi may produce disease in immunologically normal hosts, while others are classified as opportunistic pathogens, causing illness primarily in immunocompromised individuals (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME) (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Central Nervous System Fungal Infection D020314 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Central Nervous System Fungal Infection http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Generalized Convulsive Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Generalized Convulsive Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D004829 Convulsive Generalized Seizure Disorder 2007-10-08 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH). 2007-10-05 Ganglioneuroblastoma Ganglioneuroblastoma 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D018305 MeSH includes qualified subtypes http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 D020361 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Paraneoplastic Encephalomyelitis _8.3_10.3 Paraneoplastic Autonomic Dysfunction Note that all of teh progeny of this class are in fact neurodegenerative diseases. In holding with the "realist" orientation and the effort to represent the CORE subsumptive hierarchy as a related set of functional or function-structure classes - as opposed to using causal relations to specify nervous system disease - Nervous System Paraneoplastic Syndromes have been made a sub-class of neurodegerative disease as opposed to metastatic nervous system neoplastic disease. Causal relations - such as specify a specific neoplastic condition as the cause for the resulting degeration of nervous system structure and function - will be provided via ObjectProperties. Certain disorders which are in fact Nervous System Paraneoplastic Syndromes - e.g., Lambert-Eaton Myasthenic Syndrome, Transverse Myelitis, Opsoclonus-Myoclonus Syndrome - are left as children of the functional disease categories based on the affected function (BB: 2007-10-06). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Nervous System Paraneoplastic Syndrome 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue (MeSH). Intern Med 1996 Dec;35(12):925-9 Nervous System Paraneoplastic Syndrome Generalized Seizures http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 Vestibular Seizures Convulsions Non-Epileptic Convulsion Convulsive Seizures Auditory Seizures Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." (MeSH). MeSH includes implied subtypes based on the inducing stimulus 2007-10-08 Seizures Jacksonian Seizure Gustatory Seizures Visual Seizures Sensory Seizures Vertiginous Seizures D012640 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Motor Seizures Tonic-Clonic Seizures Focal Seizures Seizures Clonic Seizures Somatosensory Seizures Tonic Seizures Olfactory Seizures http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Cardiac Neurosis A clinical syndrome characterized by palpitation, SHORTNESS OF BREATH, labored breathing, subjective complaints of effort and discomfort, all following slight EXERTION. Other symptoms may be DIZZINESS, tremulousness, SWEATING, and INSOMNIA. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Effort Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Hyperkinetic Heart Syndrome D009449 Neurocirculatory Asthenia 2007-10-05 Neurocirculatory Asthenia 2007-10-05 D002659 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 Pervasive Child Development Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 Pervasive Development Disorder Pervasive Development Disorder Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Usher's syndrome type II 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Usher syndrome type II Usher syndrome type 2 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Usher syndrome type II http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D052245 C0339534 C1568249 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Autonomic Dysreflexia 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Autonomic Hyperreflexia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Spinal Autonomic Dysreflexia 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 CEREBROVASCULAR ACCIDENT (MeSH). Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60 Autonomic Dysreflexia D020211 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 D004827 Seizure Disorder 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource _8.3_5 Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Epileptic Seizure A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH). 2007-10-05 D003711 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Demyelinating disorder _8.3_3 Demyelinating disease Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. C0011303 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Demyelinating disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Anatomical location: Pons - Basis pontis and fascicles of CN VI amd VII; Vasculature: Basilar artery, Paramedian and Short circumferential branches; Symptoms: contralateral - weakness in upper and lower extremity - ipsilateral: weakness in entire side of face, as well as lateral gaze weakness http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://www.strokecenter.org/prof/syndromes/syndromePage23.htm Millard-Gubler Syndrome 2007-10-08 D020526 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Millard-Gubler Syndrome 2007-10-08 Ventral pontine syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug _8.3_10.2 Metastatic nervous system neoplastic disease 2007-10-05 Metastatic nervous system neoplastic disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 Neoplasms not composed of nerve tissue located in the nervous system or its component nerves. Retinal lattice degeneration disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 Palisade degeneration of retina Retinal lattice degeneration 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Lattice retinal degeneration Retinal lattice degeneration C0154856 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Amphetamine Addiction http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Amphetamine-Related Disorder Amphetamine Abuse D019969 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Amphetamine Dependence 2007-10-08 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Amphetamine Usage Amphetamine-Related Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Disorders related or resulting from use of amphetamines (MeSH). MeSH includes implied components of the overall spectrum of functional manifestations of Amphetamine-Related Disorder 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Central cystoid Retinal Edema http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D008269 Cystoid Macular Edema C0546382 Fluid accumulation in the outer layer of the MACULA LUTEA at the center of the RETINA. Cystic spaces are formed and may lead to a macular depression or hole. http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug C0154850 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Cystoid macular retinal degeneration Cystoid macular retinal degeneration http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D020941 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Antenatal Myasthenia Gravis In the majority of infants the myasthenic weakness resolves (i.e., Transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., Persistent neonatal myasthenia gravis) (MeSH). Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4 Neonatal Myasthenia Gravis Neonatal Myasthenia Gravis http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. (MeSH). 2007-10-08 Psychomotor Epilepsy 2007-10-08 A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy) (MeSH). Complex Partial Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource _8.3_5.1.2 D017029 Complex Partial Seizure Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Adams et al., Principles of Neurology, 6th ed, pp317-8 Symptomatic Partial Complex Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug MeSH includes implied subtypes Psychic Equivalent Epilepsy Complex Partial Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Cryptogenic Partial Complex Epilepsy Hereditary Sensory Autonomic Neuropathy, Type 2 D009477 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Hereditary Sensory Autonomic Neuropathy, Type 2 HSAN Type II 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH HSN Type II http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 D020806 Central Nervous System Bacterial Infection _8.3_6.1 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces (MeSH). Central Nervous System Bacterial Infection 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 C0043116 Infantile Spinal Muscular Atrophy 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Additional MeSH entry terms imply there are subtypes based on the location of the motor neuron degeneration - e.g.: Proximal Hereditary Motor Neuropathy (HMN) Type I Type I is fatal in infancy (MeSH). HMN Proximal Type I Werdnig-Hoffmann Disease Type I Spinal Muscular Atrophy J Med Genet 1996 Apr:33(4):281-3 WHD Hereditary Motor Neuropathy Proximal Type I Type I Spinal Muscular Atrophy D014897 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH NF2 D016518 Neurofibromatosis Type 2 Neurofibromatosis 2 Neurofibromatosis 2 An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas ( NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.(MeSH). Neurofibromatosis Type II Familial Acoustic Neuroma Bilateral Acoustic Schwannoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Bilateral Acoustic Neuroma 2007-10-05 Neurofibromatosis II Bilateral Acoustic Neurofibromatosis Pinealoma http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Pinealoma http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Pineal Tumor Pineal Parenchymal Tumor D010871 Pineoblastoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Pineocytoma DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670 2007-10-05 Pineal Neoplasm Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor (MeSH). 2007-10-05 Pinealocytoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 Agoraphobia Obsessive, persistent, intense fear of open places (MeSH). 2007-10-05 D000379 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Agoraphobia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D020363 Limbic Encephalitis Limbic Encephalitis Pathologe 1997 Sep;18(5):406-10; J Int Neuropsychol Soc 1996 Sep;2(5):460-6; Brain 1997 Jun;120(Pt 6):923-8 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Paraneoplastic Limbic Encephalitis http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug A paraneoplastic syndrome marked by degeneration of neurons in the medial temporal lobe. Clinical features include behavioral changes, HALLUCINATIONS, loss of short term memory, anosmia, AGEUSIA, and DEMENTIA. Circulating anti-neuronal antibodies (anti-Hu; also called ANNA 1) and small cell lung carcinomas are frequently associated with this condition (MeSH). 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Pyrexial Convulsion 2007-10-08 Febrile Convulsion Seizure Febrile Seizures Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." (MeSH). Pyrexial Seizure http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D003294 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Febrile Fit Febrile Seizures Fever Convulsion http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Febrile Convulsions http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 Fever Seizure Simple Febrile Seizure MeSH includes implied subtypes Complex Febrile Seizure http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D004829 Generalized Nonconvulsive Epilepsy Nonconvulsive Generalized Seizure Disorder Generalized Nonconvulsive Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D020371 April 11, 2009 Transitional Pelizaeus-Merzbacher's Disease Transitional Pelizaeus-Merzbacher Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Transitional Pelizaeus Merzbacher's Disease Transitional Pelizaeus-Merzbacher Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 D009477 2007-10-05 HSN Type V http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Hereditary Sensory Autonomic Neuropathy, Type 5 Hereditary Sensory Autonomic Neuropathy, Type 5 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH HSAN Type V Usher's syndrome type 1 C0339533 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 Usher syndrome type I http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 Usher syndrome type 1 C1568247 D052245 Usher syndrome type I http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Asperger Syndrome DSM-IV Asperger's Disorder A childhood disorder predominately affecting boys and similar to autism ( AUTISTIC DISORDER). It is characterized by severe, sustained, clinically significant impairment of social interaction, and restricted repetitive and stereotyped patterns of behavior. In contrast to autism, there are no clinically significant delays in language or cognitive development (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Asperger Syndrome D020817 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Anatomical location: Base of Midbrain; Vasculature: Posterior cerebral artery: Penetrating branches to midbrain; Symptoms: contralateral - weakness in upper and lower extremity - ipsilateral: lateral gaze weakness http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-08 2007-10-08 Weber Syndrome D020526 Weber Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.strokecenter.org/prof/syndromes/syndromePage11.htm http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Adie Syndrome Holmes-Adie Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D000270 2007-10-05 Holmes-Adie Syndrome http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm 2007-10-08 D020190 Symptomatic Myoclonic Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated _8.3_5.2.3 Myoclonic Seizure Disorder MeSH includes implied subtypes Idiopathic Myoclonic Epilepsy Myoclonic Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Myoclonic Epilepsy Myoclonic Astatic Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Myoclonic Encephalopathy 2007-10-08 A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.) (MeSH). Myoclonic Absence Epilepsy Cryptogenic Myoclonic Epilepsy D006816 Late-Onset Huntington Disease Late-Onset Huntington's Disease Late Onset Huntingtons Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Late Onset Huntington Disease Late-Onset Huntingtons Disease Late-Onset Huntington Disease 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Gayet-Wernicke Encephalopathy Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3 Wernicke Encephalopathy Wernicke Disease 2007-10-08 Wernicke Syndrome Wernicke Encephalopathy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource This class will utlimately be moved to a position reflecting the effected function, as opposed to one reflecting causation (BB: 2007-10-08) Cerebral Beriberi http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME (MeSH). 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#graph_position_temporary D011604 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Gross myopic retinal degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Peripheral myopic atrophy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS C0339422 Myopic chorioretinal degeneration 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Myopic chorioretinal atrophy 2007-11-18 Myopic chorioretinal atrophy disorder Myopic chorioretinal atrophy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Type I Canavan's Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Neonatal Canavan Disease April 11, 2009 Type I Canavan Disease D017825 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Type I Canavans Disease 2007-10-05 Type I Canavan Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Demyelinative Myelitis Necrotizing Myelitis Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Post-vaccinal or postinfectious inflammation of the spinal cord only goes here, in central nervous system or brain see X refs at ENCEPHALOMYELITIS, ACUTE DISSEMINATED (MeSH). 2007-10-05 Transverse Myelopathy Syndrome Adams et al., Principles of Neurology, 6th ed, pp1242-6 D009188 http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Transverse Myelitis Transverse Myelitis Acute Transverse Myelitis Subacute Transverse Myelitis Joynt, Clinical Neurology, 1997, Ch 54, p3 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Autoimmune Experimental Myasthenia Gravis Experimental Myasthenia Gravis Any autoimmune animal disease model used in the study of MYASTHENIA GRAVIS. Injection with purified neuromuscular junction acetylcholine receptor (AChR) (see RECEPTORS, CHOLINERGIC) components results in a myasthenic syndrome that has acute and chronic phases. The motor endplate pathology, loss of acetylcholine receptors, presence of circulating anti-AChR antibodies, and electrophysiologic changes make this condition virtually identical to human myasthenia gravis (MeSH). D020720 Passive transfer of AChR antibodies or lymphocytes from afflicted animals to normals induces passive transfer experimental autoimmune myasthenia gravis (i.e., Passive Transfer Experimental Autoimmune Myasthenia Gravis) (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Autoimmune Experimental Myasthenia Gravis Experimental Myasthenia Atrophic age-related macular degeneration C0271083 Atrophic senile macular retinal degeneration Geographic atrophy of macula http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Nonexudative senile macular degeneration Nonneovascular age-related macular degeneration http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Nonexudative age-related macular degeneration 2007-11-18 Dry senile macular retinal degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Nonexudative senile macular retinal degeneration disorder Dry senile macular retinal degeneration 2007-11-18 Nonexudative age-related macular degeneration disorder Frontal Lobe Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D017034 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated MeSH includes implied subtypes Adams et al., Principles of Neurology, 6th ed, pp318-9 Supplementary Motor Epilepsy 2007-10-08 Anterior Fronto-Polar Epilepsy Orbito-Frontal Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Simple or complex motor movements may occur, and most commonly involve the face and upper extremities. Seizures in the anterior frontal regions may be associated with head and eye turning, typically away from the side of origin of the seizure. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures) (MeSH). 2007-10-08 Opercular Epilepsy Cingulate Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Benign Frontal Childhood Epilepsy Frontal Lobe Epilepsy Complex Partial Seizure Disorder Neurofibrosarcoma DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurogenic Sarcoma A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1 (MeSH). 2007-10-05 D018319 Neurofibrosarcoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 Central Nervous System Viral Infection Central Nervous System Viral Infection _8.3_6.2 Viral CNS Infection http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 D020805 Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-08 Non-Familial Benign Neonatal Epilepsy Non-Familial Benign Neonatal Convulsions http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D020936 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Non-Familial Benign Neonatal Epilepsy 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Type II Spinal Muscular Atrophy Late infantile spinal muscular atrophy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 J Med Genet 1996 Apr:33(4):281-3 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 SMA2 C0393538 D014897 Type II has a late infantile onset and is associated with survival into the second or third decade (MeSH). Type II Spinal Muscular Atrophy D000544 Early Onset Alzheimer Disease Alzheimer Dementia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#curation_complete 2006-04-04 Alzheimer disease Alzheimer Type Senile Dementia A neurodegenerative disease resulting in the insidious onset of dementia. Impairment of memory, judgement, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (adapted from MSH) _8.3_2.1 Primary Senile Degenerative Dementia Late Onset Alzheimer Disease Focal Onset Alzheimer's Disease Alzheimer Type Dementia Adams et al., Principles of Neurology, 6th ed, pp1049-57 AD MeSH includes implied subtypes based mostly on chronological time of onset Alzheimer's Alzheimers Acute Confusional Senile Dementia April 11, 2009 Alzheimer Senile Dementia http://www.ninds.nih.gov/disorders/alzheimersdisease/alzheimersdisease.htm http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alzheimer's disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BIRN_OTF http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Alzheimers disease Alzheimers disease Presenile Dementia Alzheimer's Dementia C0002395 Anxiety Neurosis http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource _8.3_11.4 Persistent and disabling ANXIETY (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 Neurotic Anxiety State Anxiety Disorder 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Anxiety Disorder D001008 Classic Pelizaeus-Merzbacher's Disease Classic Pelizaeus-Merzbacher Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Classic Pelizaeus Merzbacher's Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 D020371 April 11, 2009 Classic Pelizaeus-Merzbacher Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D020362 Paraneoplastic Cerebellar Degeneration Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals (MeSH). MeSH includes qualified subtypes http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Anti-Yo-Associated Paraneoplastic Cerebellar Degeneration 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p686 Paraneoplastic Cerebellar Degeneration Paraneoplastic Cerebellar Syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 Multisystem disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Diseases whose constellation of symptoms occurs across multiple body systems. Multisystem disease Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Astroglioma The following Entry Terms in MeSH imply a series of sub-types based on anatomical location, developmental onset, histological profile, and neoplastic state: Astrocytoma, Grade I; Astrocytoma, Grade II; Astrocytoma, Grade III; Astrocytoma, Protoplasmic; Astrocytoma, Subependymal Giant Cell; Cerebral Astrocytoma; Childhood Cerebral Astrocytoma; Fibrillary Astrocytoma; Gemistocytic Astrocytoma; Intracranial Astrocytoma; Juvenile Pilocytic Astrocytoma; Oligoastrocytoma, Mixed; Pilocytic Astrocytoma; Subependymal Giant Cell Astrocytoma Astrocytoma D001254 2007-10-05 Astrocytic Glioma http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 Astrocytoma Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH). Grades I-III go here, with pathol Infantile Canavan Disease D017825 Type II Canavan Disease Type II Canavan's Disease 2007-10-05 April 11, 2009 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Type II Canavans Disease Type II Canavan Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Spongy Degeneration of Infancy Complex Regional Pain Syndrome Type II http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Causalgia Adams et al., Principles of Neurology, 6th ed, p1359 2007-10-05 Causalgia Syndrome D002422 Deafferentation Pain CRPS Type II Causalgia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch ( HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur (MeSH). Familial macular degeneration 2007-11-18 Familial macular degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 Glaucomatous retinal degeneration Glaucomatous retinal degeneration syndrome 2007-11-18 Glaucomatous retinal degeneration C0521686 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D009157 2007-10-05 Myasthenia Gravis, Ocular http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Myasthenia Gravis, Ocular D014029 Tobacco Use Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource includes cigarettes, cigars, chewing tobacco & snuff; a psychiatric diag: do not confuse with SMOKING / adv eff; note X ref NICOTINE DEPENDENCE: do not coord with NICOTINE unless nicotine is substantially discussed as a chemical _8.3_11.1.4 Nicotine Use Disorder 2007-10-08 Nicotine Use Disorder Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included (MeSH). 2007-10-08 Nicotine Addiction Nicotine Dependence MeSH includes implied components of the overall spectrum of functional manifestations of Nicotine Use Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Schilder Disease http://www.ninds.nih.gov/disorders/schilders/schilders.htm Schilder's Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (MeSH). Encephalitis Periaxialis Diffusa http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Schilders Disease Alpers' Disease Cerebral Sclerosis, Diffuse http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Poliodystrophia Cerebri April 11, 2009 Myelinoclastic Diffuse Sclerosis Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73 Encephalitis Periaxialis Concentrica Alpers Syndrome D002549 Balo's Concentric Sclerosis Diffuse Cerebral Sclerosis of Schilder Diffuse Cerebral Sclerosis of Schilder Alpers Disease Encephalitis Periaxialis http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with Ewing's Sarcoma ( SARCOMA, EWING'S). They may arise from the chest wall, skin, orbit, kidney, and other structures and tend to be locally invasive or metastasize, although relatively benign forms may occur. Characteristic histologic features include a tendency to form Homer-Wright rosettes and to stain positively with neuron-specific enolase and vimentin (MeSH). Peripheral Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Neoplasm http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D018241 Neuroepithelioma DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2113; J Clin Oncol 1998 Mar;16(3):1150-7 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Peripheral Primitive Neuroectodermal Tumor 2007-10-05 2007-10-05 pPNET Peripheral Primitive Neuroectodermal Neoplasm Extracranial Primitive Neuroectodermal Tumor Segmental Myoclonus 2007-10-05 2007-10-05 Oculopalatal Myoclonus Myoclonus Lower Extremity Myoclonus Intention Myoclonus Myoclonic Jerking MeSH includes qualified subtypes Polymyoclonus Myoclonus Simplex http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Eyelid Myoclonus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Sleep Myoclonus Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME (MeSH). Nocturnal Myoclonus Upper Extremity Myoclonus D009207 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource For "myoclonic seizure" consider MYOCLONUS or EPILEPSY, MYOCLONIC or SPASMS, INFANTILE; note other myoclonus terms are also available http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Palatal Myoclonus Action Myoclonus Myoclonus 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Esthesioneuroblastoma Olfactory Esthesioneuroblastoma Olfactory Neuroblastoma D018304 Paranasal Sinus-Nasal Cavity Esthesioneuroblastoma 2007-10-05 Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33 A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases (MeSH). Aesthesioneuroblastoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Olfactory Esthesioneuroblastoma MeSH includes implied subtypes Symptomatic Generalized Epilepsy Generalized Epilepsy 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Generalized Seizure Disorder _8.3_5.2 "generalized" as opposed to "focal" or partial ( = EPILEPSIES, PARTIAL); prefer specific indentions; note X ref EPILEPSY, TONIC: do not confuse with EPILEPSY, TONIC-CLONIC http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic) (MeSH). D004829 Generalized Epilepsy Mayo Clin Proc, 1996 Apr;71(4):405-14 Generalized Onset Seizure Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Central Nervous System Parasitic Infection D020807 Infections of the brain, spinal cord, and meninges caused by parasites, primarily PROTOZOA and HELMINTHS (MeSH). 2007-10-05 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Central Nervous System Parasitic Infection http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Juvenile Spinal Muscular Atrophy SMA3 D014897 Type III has its onset in childhood and is slowly progressive (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 Kugelberg-Welander Disease SMA type III http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Type III Spinal Muscular Atrophy Type III Spinal Muscular Atrophy J Med Genet 1996 Apr:33(4):281-3 C0152109 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BIRN_OTF 2007-11-18 Degenerative Neurologic Disorder Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. (MeSH). Nervous System Degenerative Disease Neurologic Degenerative Condition _8.3_2 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2006-07-15 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. Degenerative Neurologic Disease Neurodegenerative Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D019636 Neurodegenerative disease Neurodegenerative disease 2007-10-08 D019973 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alcohol-Related Disorder _8.3_11.1.1 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Alcohol-Related Disorder Disorder related to or resulting from abuse or mis-use of alcohol (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Cockayne-Pelizaeus-Merzbacher Disease http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm Pelizaeus-Merzbacher's Disease 2007-10-05 D020371 A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance) (MeSH). Pelizaeus-Merzbacher Disease April 11, 2009 Pelizaeus Merzbacher's Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Pelizaeus-Merzbacher Disease Anniversary Reaction Transient Situational Disturbance Adjustment Disorder Maladaptive reactions to identifiable psychosocial stressors occurring within a short time after onset of the stressor. They are manifested by either impairment in social or occupational functioning or by symptoms (depression, anxiety, etc.) that are in excess of a normal and expected reaction to the stressor (MeSH). 2007-10-05 Adjustment Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Reactive Depression Reactive Disorder 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D000275 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Paraneoplastic Polyneuropathy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy (MeSH). Adams et al., Principles of Neurology, 6th ed, p1334 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Paraneoplastic Peripheral Neuropathy Paraneoplastic Polyneuropathy 2007-10-05 D020364 Paraneoplastic Neuropathy Ushers Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS dystrophia retinae pigmentosa-dysostosis syndrome Hallgrens syndrome Hallgren's syndrome * a hereditary disorder characterized by deaf-mutism, retinitis pigmentosa, and occasional mental retardation. Early cases were reported mainly in Jews in Germany but later observations came from Finland, Norway, France, England, Israel, Louisiana. (the Acadian type affecting 4.4 per 100,000), and other parts. Several types are recognized: Type I. Synonyms: Usher syndrome type I (US1, USH1) Usher syndrome type IA (US1A, USH1A) Usher syndrome, French type Type IB Synonyms: Usher syndrome type IB (US1B, USH1B) Usher syndrome, non-Acadian variety Type IC Synonyms: Usher syndrome type IC (US1C, USH1C) Usher syndrome, Acadian variety Profound congenital deafness with onset of retinitis pigmentosa by the age of 10 years. Type II Synonyms: Usher syndrome type II (US2, USH2) Type IIB Synonyms: Usher syndrome IIB (US2B, USH2B) Type III Synonyms: Usher syndrome type III (US3, USH3) Retinitis pigmentosa first noted at puberty with progressive hearing loss. Schizophrenia reported in some cases. Type IV Synonyms: Usher syndrome type IV (US4, USH4) Retinitis pigmentosa and deafness possibly transmitted as an X-linked trait. (JABL) * autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable. (MSH) * hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked. (CSP) Usher's Syndrome Retinitis pigmentosa-deafness syndrome Graefe-Usher syndrome DRD D052245 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Usher Syndrome April 11, 2009 2007-11-18 retinitis pigmentosa-congenital deafness syndrome dystrophia retinae-dysacousis syndrome C0271097 US http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Hallgren syndrome Usher Syndrome Globoid Cell Leukodystrophy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Krabbe's Disease Globoid Cell Leukodystrophy Krabbes Disease Globoid Leukodystrophy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Krabbe Disease Krabbe's Leukodystrophy 2007-10-05 D007965 April 11, 2009 http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses (MeSH). Galactosylceramidase Deficiency Disease Diffuse Globoid Body Sclerosis Galactosylceramide-beta-Galactosidase Deficiency Disease 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Deafmutism-retinal degeneration syndrome http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Deafmutism-retinal degeneration syndrome 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Dalinas-Amalric syndrome C0271504 Diallinas-Amalric syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Juvenile Canavan Disease Type III Canavan's Disease 2007-10-05 April 11, 2009 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Type III Canavan Disease Type III Canavans Disease D017825 Type III Canavan Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D010623 Angel Dust Abuse 2007-10-08 PCP Abuse http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 Phencyclidine-Related Disorder The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning (MeSH). Phencyclidine-Related Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D020918 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; ( REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA) (MeSH). Autonomic Hyperreflexia Pain 1995 Oct;63(1):127-33 http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm Complex Regional Pain Syndrome Complex Regional Pain Syndrome 2007-10-05 CRPS http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 CNS Demyelinating Autoimmune Diseases CNS Autoimmune Demyelinating Disorders Demyelinating Autoimmune Disease For central nervous system diseases only; for demyelinating diseases of the peripheral nervous system consider POLYRADICULONEURITIS; GUILLAIN-BARRE SYNDROME; and CHRONIC INFLAMMATORY POLYRADICULONEUROPATHY; for demyelinating autoimmune diseases of the brain or spinal cord not otherwise specified coord with BRAIN DISEASES or SPINAL CORD DISEASES (MeSH). 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Autoimmune Demyelinating Diseases, Central Nervous System D020278 Demyelinating Autoimmune Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated _8.3_9.1 http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm Myasthenia Gravis D009157 Myasthenia Gravis 2007-10-05 2007-10-05 A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Adams et al., Principles of Neurology, 6th ed, p1459 Myasthenia Gravis, Generalized http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 D009447 DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Neuroblastoma Neuroblastoma A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). Wet senile macular retinal degeneration Exudative senile macular degeneration of retina http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug C0271084 Kuhnt-Junius degeneration http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Wet senile macular retinal degeneration Subretinal neovascularization of macula Kuhnt-Junius degeneration disorder Exudative age-related macular degeneration disorder 2007-11-18 2007-11-18 Junius-Kuhnt degeneration Disciform senile macular retinal degeneration Exudative senile macular retinal degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Metabolic Nervous System Disorder MeSH includes all the listed synonyms with ACQUIRED pre-pended, indicating a non-hereditary subtype. _8.3_7 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Metabolic Nervous System Disease 2007-10-08 Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function (MeSH). Central Nervous System Metabolic Disorder Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. Metabolic Encephalopathy 2007-11-18 Metabolic Brain Disease CNS Metabolic Disorder Metabolic Brain Disorder Brain dysfunction or damage caused by acquired (i.e., non-inborn) metabolic disorders. Associated conditions include ENDOCRINE DISEASES; WATER-ELECTROLYTE IMBALANCE; KIDNEY DISEASES; LIVER DISEASES; anoxia ( HYPOXIA, BRAIN); nutritional disorders (see NUTRITIONAL AND METABOLIC DISEASES); an encephalopathy associated with HEMODIALYSIS; and other disorders (MeSH). Metabolic Nervous System Syndrome Metabolic Nervous System Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D001928 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Metabolic Brain Syndrome Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, pp208-260 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS 2007-11-18 2007-11-18 Peripheral snowflake retinal degeneration Peripheral snowflake retinal degeneration disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Peripheral snowflake retinal degeneration C0344291 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Snowflake retinal degeneration http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Akinetic-Rigid Variant of Huntington Disease D006816 2007-10-05 Akinetic-Rigid Variant of Huntingtons Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Akinetic-Rigid Variant of Huntington Disease April 11, 2009 Huntington Disease, Akinetic-Rigid Variant Akinetic-Rigid Variant of Huntington's Disease Acute Inflammatory Polyneuropathy 2007-10-05 D020275 http://www.ninds.nih.gov/disorders/gbs/gbs.htm An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur (MeSH). 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Guillain-Barre Syndrome AIDP Acute Inflammatory Polyradiculoneuropathy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Adams et al., Principles of Neurology, 6th ed, pp1312-1314 Guillaine-Barre Syndrome Acute Inflammatory Demyelinating Polyradiculoneuropathy Do not confuse X ref POLYRADICULONEUROPATHY, ACUTE INFLAMMATORY with POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY see POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Landry-Guillain-Barre Syndrome Guillain-Barre Syndrome Acute Autoimmune Neuropathy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D018317 2007-10-05 Nerve Sheath Neoplasms Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Nerve Sheath Neoplasms http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Retinal disease retinal disorder 2007-11-18 Retinal disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D012164 C0035309 retinopathy retinopathia Pathologic condition of the innermost of the three tunics of the eyeball or retina. (CSP) 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug _8.3_3.1 Multiple Sclerosis D009103 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur (MeSH). Acute Fulminating Multiple Sclerosis Disseminated Sclerosis http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated MS http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p903 2007-10-05 Multiple Sclerosis RSD CRPS Type I Reflex Sympathetic Dystrophy Sudek Atrophy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-05 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema (MeSH). Complex Regional Pain Syndrome Type I http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Cervical Sympathetic Dystrophy Algodystrophic Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33 Sympathetic Reflex Dystrophia Shoulder-Hand Syndrome Algodystrophy Reflex Sympathetic Dystrophy D012019 Reflex Sympathetic Dystrophy Syndrome August 11, 2009 Jane Bugea Picks Disease Pick's Disease Familial pseudoinflammatory macular degeneration C0520726 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Sorsbys macular degeneration 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS 2007-11-18 Familial pseudoinflammatory macular degeneration disorder Familial pseudoinflammatory macular degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH D052879 2007-10-05 Subacute Combined Degeneration A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Subacute Combined Neuropathy Degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Subacute Combined Degeneration 2007-10-05 Classic Globoid Cell Leukodystrophy D007965 Classic Globoid Cell Leukodystrophy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug DSM-IV, p386 Depression in POSTPARTUM WOMEN, usually within four weeks after giving birth ( PARTURITION). The degree of depression ranges from mild transient depression to neurotic or psychotic depressive disorders (MeSH). Post-Natal Depression http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Postpartum Depression 2007-10-08 D019052 Postpartum Depression Post-Partum Depression 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cerebrovascular Apoplexya D020521 Apoplexy 2007-10-08 CVA http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Cerebrovascular Stroke Cerebrovascular Accident Stroke A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Cerebral Stroke 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource _8.3_1 Cerebrovascular Accident http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Adams et al., Principles of Neurology, 6th ed, pp777-810 Batten-Mayou Disease Jansky-Bielschowsky Disease D009472 Spielmeyer-Vogt Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource MeSH includes several implied subtypes based primarily on causation Batten's Disease Neuronal Ceroid Lipofuscinosis Santavuori-Haltia Disease Batten Disease Batten-Spielmeyer-Vogt Disease The MeSH term includes implied subtypes related to developmental stage at time of diagnosis: Infantile Neuronal Ceroid Lipofuscinosis, Late-Infantile Neuronal Ceroid Lipofuscinosis, Juvenile Neuronal Ceroid Lipofuscinosis, and Adult Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 2008-01-18 Juvenile Cerebroretinal Degeneration http://www.ninds.nih.gov/disorders/batten/batten.htm C0751383 April 11, 2009 Battens Disease Adult Neuronal Ceroid Lipofuscinosis * A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials ( CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page). Kufs Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Bill_Bug D007966 Metachromatic Leukodystrophy, Adult-Type http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Metachromatic Leukodystrophy, Adult-Type 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 D018887 Landau-Kleffner Syndrome A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence ( EPILEPSY, ABSENCE), complex partial ( EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495 Acquired Childhoood Aphasia with Convulsive Disorder Landau-Kleffner Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Acquired Epileptic Aphasia Landau-Kleffner Acquired Epileptiform Aphasia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Fisher Syndrome A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves (MeSH). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8 Miller Fisher Syndrome http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm D019846 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Miller Fisher Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug X ref FISHER SYNDROME: do not confuse with the Fisher one-and-a-half syndrome, an eye movement disorder caused by a brain stem lesion. Guillain Barre Syndrome, Miller Fisher Variant Ophthalmoplegia, Ataxia and Areflexia Syndrome Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. (MeSH). Neurodevelopmental disease _8.3_4 Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by BIRN researchers. Though this will be te case, BIRNLex still needs to provide a core asserted hierarchy for a broad swarth of nervous system disease, so as to enable BIRN researchers to link to the breadth of disorders that may impact or relate to those directly under study. http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 Neurodevelopmental disease C0030567 June 24, 2009 Paralysis Agitans * A disease characterized as a progressive motor disability manifested by tremors, shaking, muscular rigidity, and lack of postural reflexes. (PSY) * A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75) (MSH) * progressive, degenerative disorder of the nervous system characterized by tremors, rigidity, bradykinesia, postural instability, and gait abnormalities; caused by a loss of neurons and a decrease of dopamine in the basal ganglia. (CSP) Primary Parkinsonism Parkinsons disease _8.3_2.7 Idiopathic PD Parkinson's Idiopathic Parkinson Disease Parkinsons PD Parkinson disease Parkinson's disease Parkinson's syndrome MeSH includes several implied subtypes based primarily on causation Parkinsonian disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource 2007-03-05 Lewy Body Parkinson Disease Parkinsons disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Bill_Bug Parkinson syndrome http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm The following Entry Terms in MeSH imply a series of sub-types based on gross anatomy, histological profile, and neoplastic state: Anaplastic Ependymoma; Cellular Ependymoma; Clear Cell Ependymoma; Ependymoma, Myxopapillary; Ependymoma, Papillary; Papillary Ependymoma 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-10-05 Ependymoma http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource D004806 DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9 Glioma derived from ependymocytes that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors (MeSH). Ependymoma http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Dejerine-Thomas Syndrome D009849 The MeSH term has the following implied subtypes: Nonfamilial Olivopontocerebellar Atrophy; Idiopathic Olivopontocerebellar Atrophy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Olivo-Ponto-Cerebellar Atrophy Olivopontocerebellar Atrophies Olivopontocerebellar Atrophy Presenile Ataxia Pontoolivocerebellar Atrophy Adams et al., Principles of Neurology, 6th ed, p1085 Olivopontocerebellar Atrophy 2007-10-05 A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://www.ninds.nih.gov/disorders/opca/opca.htm C0028968 Olivopontocerebellar Degeneration Olivo-Ponto-Cerebellar Degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Olivopontocerebellar Atrophy April 11, 2009 Juvenile-Onset Huntington's Disease http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Juvenile-Onset Huntingtons Disease Juvenile Huntington Disease Juvenile Onset Huntington's Disease Juvenile-Onset Huntington Disease http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Juvenile-Onset Huntington Disease 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D006816 Snowflake retinal degeneration disorder Snowflake retinal degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS 2007-11-18 Snowflake retinal degeneration C0339443 Alcoholism Morse and Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4 D000437 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Alcoholism http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-08 Chronic Alcoholic Intoxication A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic (MeSH). Alcohol Abuse 2007-10-08 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Glioblastoma Glioblastoma 2007-10-05 A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH). Glioblastoma Multiforme D005909 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Giant Cell Glioblastoma Astrocytoma, Grade IV for GLIOBLASTOMA, RETINAL see RETINOBLASTOMA _8.3_11.6 2006-06-01 Schizophrenia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Schizophrenic Disorder 2007-10-08 Dementia Praecox http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner C0036341 A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, hallucinations, emotional disharmony, and regressive behavior. (MeSH) Schizophrenia _8.3_10.1.2 2007-10-05 D008579 Meningioma MeSH lists a large variety of Meningioma types categorized largely by anatomic location, histologic characteristics, or benign vs. malignant (i.e.: Angioblastic Meningioma; Angiomatous Meningioma; Benign Meningioma; Cerebral Convexity Meningioma; Clear Cell Meningioma; Fibrous Meningioma; Hemangioblastic Meningioma; Hemangiopericytic Meningioma; Intracranial Meningioma; Intraorbital Meningioma; Intraventricular Meningioma; Malignant Meningioma; Meningiomas, Multiple; Meningiomatosis; Meningotheliomatous Meningioma; Microcystic Meningioma; Olfactory Groove Meningioma; Papillary Meningioma; Parasagittal Meningioma; Posterior Fossa Meningioma; Psammomatous Meningioma; Secretory Meningioma; Sphenoid Wing Meningioma; Spinal Meningioma; Transitional Meningioma; Xanthomatous Meningioma). http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Meningioma Retinal degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Generalized retinal degeneration http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated degeneration of retina Ophthalmoplegic-retinal degeneration syndrome Newell, Ophthalmology: Principles and Concepts, 7th ed, p304 * a retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) (MSH) * retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. (CSP) 2007-11-18 2007-11-18 D012162 C0035304 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Retinal degeneration Menkes, Textbook of Child Neurology, 5th ed, p199 Rett Syndrome Rett Disorder http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH). 2007-10-08 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Cerebroatrophic Hyperammonemia Rett Syndrome D015518 2007-10-05 Polyradiculoneuropathy Do not confuse with POLYRADICULOPATHY (disease of multiple nerve roots) nor with RADICULOPATHY (disease of a single nerve root) Polyradiculoneuropathy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Peripheral Autoimmune Demyelinating Disease D011129 Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy ( GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug _8.3_3.2 Polyradiculoneuritis Polyneuropathy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug D007966 2007-10-05 Metachromatic Leukodystrophy, Infant-Type http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Metachromatic Leukodystrophy, Infant-Type 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 Sympathetic Ocular-Ophthalmoplegia http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition (MeSH). Bernard Syndrome Oculosympathetic Syndrome Horner Syndrome http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Miosis, Innervational Defect 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Horner Syndrome Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11 D006732 Claude Bernard-Horner Syndrome Ptosis Sympathetic Progressive Relapsing Multiple Sclerosis Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914 Remittent Progressive Multiple Sclerosis Chronic Progressive Multiple Sclerosis A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Chronic Progressive Multiple Sclerosis 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 D020528 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Familial juvenile macular degeneration syndrome C0271093 Familial juvenile macular degeneration Fundus flavimaculatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated 2007-11-18 FFM http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-11-18 Stargardts disease Familial juvenile macular degeneration 2007-10-08 D003866 Depressive Neurosis _8.3_11.2 Neurotic Depression http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Depressive Syndrome 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Melancholia Depressive Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Endogenous Depression Depressive Disorder Unipolar Depression An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent (MeSH). 2007-10-05 Chronic Inflammatory Demyelinating Polyradiculoneuropathy CIDP Adams et al., Principles of Neurology, 6th ed, p1337 A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Chronic Inflammatory Demyelinating Polyradiculoneuropathy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://www.ninds.nih.gov/disorders/cidp/cidp.htm 2007-10-05 D020277 Chronic Inflammatory Polyradiculopathy Chronic Inflammatory Demyelinating Polyneuropathy Chronic Inflammatory Polyradiculoneuropathy Do do not confuse X ref CHRONIC INFLAMMATORY POLYRADICULONEUROPATHY with POLYRADICULONEUROPATHY, ACUTE INFLAMMATORY see GUILLAIN-BARRE SYNDROME. http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Infantile Globoid Cell Leukodystrophy 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 D007965 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Infantile Globoid Cell Leukodystrophy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Metachromatic Leukodystrophy, Juvenile-Type http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D007966 Metachromatic Leukodystrophy, Juvenile-Type 2007-10-05 Brain Infarction http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Posterior Circulation Brain Infarction Anterior Circulation Brain Infarction 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Brain Infarction http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Anterior Cerebral Circulation Infarction D020520 The formation of an area of necrosis in the brain, including the cerebral hemispheres (see CEREBRAL INFARCTION), thalami, basal ganglia, brain stem ( BRAIN STEM INFARCTIONS), or cerebellum secondary to an insufficiency of arterial or venous blood flow (MeSH). Lacunar Infarction MeSH includes implied subtypes based on the effected vessels 2007-10-08 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Venous Brain Infarction http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Eating-Induced Epilepsy Writing-Induced Reflex Epilepsy Musicogenic Epilepsy Neurol Clin 1994 Feb;12(1):57-8 Reflex Epilepsy Immersion Related Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 2007-10-08 Cursive Epilepsy http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Visual Pattern Reflex Epilepsy Photosensitive Epilepsy D020195 Decision Making Reflex Epilepsy MeSH includes implied subtypes based on the inducing stimulus Audiogenic Epilepsy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-08 Tactile Reflex Epilepsy A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals (MeSH). Reflex Epilepsy Reading Epilepsy A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord (MeSH). Multiple System Atrophy http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/msa/msa.htm D019578 Multiple System Atrophy Syndrome _8.3_2.11 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Multisystemic Atrophy A specific neurodegenerative syndrome complex; not for atrophy in other systems (BB: 2007-10-05) Multisystem Atrophy Multiple System Atrophy Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH 2007-10-05 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug Adams et al., Principles of Neurology, 6th ed, p681 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH). http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug 2007-10-05 Optic Nerve Glioma Optic Nerve Glioma Optic Glioma http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Glioblastoma Multiforme http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated D020339 2007-10-05 Malignant Optic Nerve Astrocytoma D009423 Nervous system neoplastic disease Despite the fact most of the subclasses for neoplastic disease appear to be representing an object (the neoplasm itself), they should be considered to be representing the disposition for a given tissue to develop such a neoplasm. It is left for the future as to how this disposition will be linked to the tissue bearing that disposition. Again - we will consult those working on a realist representation of neoplastic disorders for insight and guidance on this task (BB: 2007-10-05). This entire branch will ultimately be vetted against the NCI Thesaurus and reviewed with NCICB staff working on representation for nervous system neoplasms (2007-10-05).