]> 1.5 (December, 2012) Amarnath Gupta Bill Bug Carol Bean Christine Fennema-Notestine David Kennedy Fahim Imam ID use: 2086, 2104; 12500 - 12831 Jeff Grethe Jessica Turner Maryann Martone NIF-Dysfunction (formally BIRNLex-Disease) The BIRN Ontology Task Force The BIRN project lexicon 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. Using birnlex IDs starting with 12500. en next ID: birnlex_12832 v1.3.1 - moved disease from BIRNLex-Other to to this stand-alone module. (BB: 2007-10-05) v1.4 (May 2012) - Addition of DOID as an imported module. Addition of a bridging module that assigns equivalencies between DOID and NIF-Dysfunction classes. v1.5 (December 2012) - Additional classes from NeuroLex: Neuropathy, Giant axonal neuropathy etc. and some hierarchical changes. Importing the newer version of doid <http://purl.obolibrary.org/obo/doid/2012-12-07/doid.owl> v1.6 (January 2013) - Additional classes from NeuroLex: Traumatic brain injury. v1.3.2 - moved neuro diseases under Nervous system disease class and added eye and multisystem diseases (BB: 2007-11-18). 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) Disease Huntingtons disease 2007-10-05 A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. Adams et al., Principles of Neurology, 6th ed, pp1060-4 April 11, 2009 Chronic Progressive Hereditary Chorea (Huntington) D006816 HD Huntington Chronic Progressive Hereditary Chorea Huntington disease Huntington's Huntington's Chorea Huntington's disease Huntingtons disease _8.3_2.10 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/huntington/huntington.htm Autistic Disorder 2007-10-01 2007-10-08 Autism Autistic Disorder DSM-IV Early Infantile Autism Infantile Autism Kanner's Syndrome _8.3_11.7 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://www.ninds.nih.gov/disorders/autism/autism.htm Lewy Body Disease 2007-10-05 2007-10-05 A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. D020961 LBD Lewy Body Disease Neurology 1997;48:376-380; Neurology 1996;47:1113-1124 There are two MeSH terms for this general term that indicate there are infact subtypes of Lewy Body Disease (i.e., Diffuse Lewy Body Disease; Cortical Lewy Body Disease) _8.3_2.9 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Akinetic-Rigid Variant of Huntington Disease 2007-10-05 Akinetic-Rigid Variant of Huntington Disease Akinetic-Rigid Variant of Huntington's Disease Akinetic-Rigid Variant of Huntingtons Disease April 11, 2009 D006816 Huntington Disease, Akinetic-Rigid Variant 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 Juvenile-Onset Huntington Disease 2007-10-05 April 11, 2009 D006816 Juvenile Huntington Disease Juvenile Onset Huntington's Disease Juvenile-Onset Huntington Disease Juvenile-Onset Huntington's Disease Juvenile-Onset Huntingtons Disease 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 Late-Onset Huntington Disease 2007-10-05 2007-10-05 D006816 Late Onset Huntington Disease Late Onset Huntingtons Disease Late-Onset Huntington Disease Late-Onset Huntington's Disease Late-Onset Huntingtons Disease 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 Demyelinating disease 2007-10-05 2007-11-18 C0011303 D003711 Demyelinating disease Demyelinating disorder Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. _8.3_3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Demyelinating Autoimmune Disease 2007-10-05 2007-10-05 Autoimmune Demyelinating Diseases, Central Nervous System CNS Autoimmune Demyelinating Disorders CNS Demyelinating Autoimmune Diseases 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). D020278 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). 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 Diffuse Cerebral Sclerosis of Schilder 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73 Alpers Disease Alpers Syndrome Alpers' Disease April 11, 2009 Balo's Concentric Sclerosis Cerebral Sclerosis, Diffuse D002549 Diffuse Cerebral Sclerosis of Schilder Encephalitis Periaxialis Encephalitis Periaxialis Concentrica Encephalitis Periaxialis Diffusa Myelinoclastic Diffuse Sclerosis Poliodystrophia Cerebri Schilder Disease Schilder's Disease Schilders Disease 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 http://www.ninds.nih.gov/disorders/schilders/schilders.htm Acute Disseminated Encephalomyelitis 2007-10-05 2007-10-05 Acute Disseminated Encephalomyelitis Adams et al., Principles of Neurology, 6th ed, p921 An acute or subacute inflammatory process of the CENTRAL NERVOUS SYSTEM characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include CONFUSION, somnolence, FEVER, nuchal rigidity, and involuntary movements. The illness may progress to COMA and eventually be fatal (MeSH). D004673 Postinfectious Encephalomyelitis When post-vaccinal (note X ref) coord IM with vaccine source if pertinent (IM or NIM); for post-vaccinal or postinfectious inflammation of the spinal cord only, use MYELITIS, TRANSVERSE; (MeSH). 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 http://www.ninds.nih.gov/disorders/encephalomyelitis/acute_encephalomyelitis.htm Post-Vaccinal Encephalomyelitis 2007-10-05 2007-10-05 D004673 Form of Acute Disseminated Encephalomyelitis induced by a vacine-related infection. Post-Vaccinal Encephalitis Post-Vaccinal Encephalomyelitis Postvaccinal Encephalitis Vaccination Encephalitis 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 Postexanthem Encephalomyelitis 2007-10-05 2007-10-05 D004673 Form of Acute Disseminated Encephalomyelitis following an exanthem infection (exanthem or exanthema = an eruptive disease (as measles) or its symptomatic eruption [Merriam-Webster Online Dictonary, c. 2006-2007]). Postexanthem Encephalomyelitis 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 Acute Hemorrhagic Leukoencephalitis 2007-10-05 2007-10-05 A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, SEIZURES, and COMA. It may follow a viral illness or MYCOPLASMA PNEUMONIAE infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages (MeSH). Acute Hemorrhagic Leukoencephalitis Acute Necrotizing Encephalitis Acute Necrotizing Hemorrhagic Encephalomyelitis Adams et al., Principles of Neurology, 6th ed, pp924-5 D004684 Hemorrhagic Necrotizing Encephalomyelitis Hurst's Disease Leukoencephalitis Acuta Hemorrhagica Subacute Hemorrhagic Leukoencephalitis 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 Multiple Sclerosis 2007-10-05 2007-10-05 Acute Fulminating Multiple Sclerosis Adams et al., Principles of Neurology, 6th ed, p903 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). D009103 Disseminated Sclerosis MS Multiple Sclerosis _8.3_3.1 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 http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm Chronic Progressive Multiple Sclerosis 2007-10-05 2007-10-05 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). Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914 Chronic Progressive Multiple Sclerosis D020528 Progressive Relapsing Multiple Sclerosis Remittent Progressive Multiple Sclerosis 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 Primary Progressive Multiple Sclerosis 2007-10-05 2007-10-05 D020528 Primary Progressive Multiple Sclerosis 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 Secondary Progressive Multiple Sclerosis 2007-10-05 2007-10-05 D020528 Secondary Progressive Multiple Sclerosis 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 Relapsing-Remitting Multiple Sclerosis 2007-10-05 2007-10-05 Acute Relapsing Multiple Sclerosis Adams et al., Principles of Neurology, 6th ed, pp903-914 D020529 Relapsing-Remitting Multiple Sclerosis Remitting-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). 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 Neuromyelitis Optica 2007-10-05 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). April 11, 2009 D009471 Devic Disease Devic Syndrome Devic's Disease Devic's Syndrome Devics Disease Devics Syndrome J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387 Neuromyelitis Optica 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 http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm Transverse Myelitis 2007-10-05 2007-10-05 Acute Transverse Myelitis Adams et al., Principles of Neurology, 6th ed, pp1242-6 D009188 Demyelinative 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). Necrotizing Myelitis 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). Subacute Transverse Myelitis Transverse Myelitis Transverse Myelopathy Syndrome 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 http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm Postinfectious Myelitis 2007-10-05 2007-10-05 A form of Transverse Myelitis induced by an infection.(MeSH). D009188 Postinfectious Myelitis 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 Postvaccinal Myelitis 2007-10-05 2007-10-05 A form of Transverse Myelitis induced by a vaccine-induced infection.(MeSH). D009188 Postvaccinal Myelitis 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 Paraneoplastic Myelitis 2007-10-05 2007-10-05 A form of Transverse Myelitis associated with a neoplastic condition.(MeSH). D009188 Paraneoplastic Myelitis 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 Neurodevelopmental disease 2007-10-05 2007-11-18 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 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. _8.3_4 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Nervous system neoplastic disease 2007-10-05 Abnormal mass of tissue in the nervous system. April 29, 2010 Cancer D009423 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). Nervous system neoplastic disease 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). _8.3_10 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 Hereditary Central Nervous System Demyelinating Diseases 2007-10-05 2007-10-05 D020279 Hereditary Central Nervous System Demyelinating Diseases 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 Adrenoleukodystrophy 2007-10-05 2007-10-05 ALD Adrenoleukodystrophy Adrenomyeloneuropathy An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein ( ATP-BINDING CASSETTE TRANSPORTERS) (MeSH). D000326 Do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS (MeSH) Schilder-Addison Complex X-Linked Adrenoleukodystrophy 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 http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm Alexander Disease 2007-10-05 A rare inherited disorder of myelin formation. Alexander disease is a progressive leukoencephalopathy whose hallmark is the widespread accumulation of cytoplasmic inclusions called Rosenthal fibers. The fibers contain GLIAL FIBRILLARY ACIDIC PROTEIN in association with ALPHA-CRYSTALLIN B CHAIN. Rosenthal fibers are found predominantly in ASTROCYTES located in the subependymal, subpial, and periventricular areas of the BRAIN (MeSH). Alexander Disease Alexander's Disease Alexanders Disease April 11, 2009 D038261 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 http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm Canavan Disease 2007-10-05 A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA (MeSH). Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71 April 11, 2009 Aspartoacylase Deficiency Disease Canavan Disease Canavan's Disease Canavan-van Bogaert-Bertrand Disease Canavans Disease D017825 Do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS (MeSH). Familial Form of Canavan Disease Leukodystrophy, Spongiform Spongy Disease of Central Nervous System Spongy Disease of White Matter 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 http://www.ninds.nih.gov/disorders/canavan/canavan.htm Type I Canavan Disease 2007-10-05 April 11, 2009 D017825 Neonatal Canavan Disease Type I Canavan Disease Type I Canavan's Disease Type I Canavans Disease 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 Type II Canavan Disease 2007-10-05 April 11, 2009 D017825 Infantile Canavan Disease Spongy Degeneration of Infancy Type II Canavan Disease Type II Canavan's Disease Type II Canavans Disease 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 Type III Canavan Disease 2007-10-05 April 11, 2009 D017825 Juvenile Canavan Disease Type III Canavan Disease Type III Canavan's Disease Type III Canavans Disease 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 Globoid Cell Leukodystrophy 2007-10-05 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). April 11, 2009 D007965 Diffuse Globoid Body Sclerosis Galactosylceramidase Deficiency Disease Galactosylceramide-beta-Galactosidase Deficiency Disease Globoid Cell Leukodystrophy Globoid Leukodystrophy Krabbe Disease Krabbe's Disease Krabbe's Leukodystrophy Krabbes Disease 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 http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm Classic Globoid Cell Leukodystrophy 2007-10-05 2007-10-05 Classic Globoid Cell Leukodystrophy D007965 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 Infantile Globoid Cell Leukodystrophy 2007-10-05 2007-10-05 D007965 Infantile Globoid Cell Leukodystrophy 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 Early-Onset Globoid Cell Leukodystrophy 2007-10-05 2007-10-05 D007965 Early-Onset Globoid Cell Leukodystrophy 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 Late-Onset Globoid Cell Leukodystrophy 2007-10-05 2007-10-05 D007965 Late-Onset Globoid Cell Leukodystrophy 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 Niemann-Pick Disease 2007-10-05 A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities ( SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences (MeSH). April 11, 2009 D009542 Niemann Pick Disease Niemann Pick's Disease Niemann-Pick Disease Niemann-Pick Diseases Niemann-Pick's Disease 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 http://www.ninds.nih.gov/disorders/niemann/niemann.htm Niemann-Pick Disease, Type A 2007-10-05 April 11, 2009 Classical Niemann-Pick Disease D052536 Niemann Pick's Disease, Type A Niemann-Pick Disease, Acute Neuronopathic Form Niemann-Pick Disease, Acute Neurovisceral Form Niemann-Pick Disease, Neuronopathic Type Niemann-Pick Disease, Type A Niemann-Pick's Disease, Type A Sphingomyelinase Deficiency Disease The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the RETICULOENDOTHELIAL SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage (MeSH). 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 Niemann-Pick Disease, Type B 2007-10-05 An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type) (MeSH). April 11, 2009 D052537 Niemann Pick's Disease, Type B Niemann-Pick Disease, Adult Non-Neuronopathic Niemann-Pick Disease, Non-Neuronopathic Type Niemann-Pick Disease, Type B Niemann-Pick Disease, Type E Niemann-Pick Disease, Visceral Niemann-Pick's Disease, Type B 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 Niemann-Pick Disease, Type C 2007-10-05 An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry (MeSH). April 11, 2009 D052556 Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia Niemann Pick Disease, Type C Niemann Pick's Disease, Type C Niemann-Pick Disease with Cholesterol Esterification Block Niemann-Pick Disease without Sphingomyelinase Deficiency Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease, Nova Scotian Niemann-Pick Disease, Type C Niemann-Pick Disease, Type D Niemann-Pick's Disease, Type C 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 Metachromatic Leukodystrophy 2007-10-05 2007-10-05 An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (CEREBROSIDE-SULFATASE) leading to intralysosomal accumulation of cerebroside sulfate ( SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms (MeSH). Arylsulfatase A Deficiency Disease Cerebroside Sulphatase Deficiency Disease D007966 Greenfield's Disease Metachromatic Leukodystrophy Sulfatide Lipidosis 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 http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm Metachromatic Leukodystrophy, Infant-Type 2007-10-05 2007-10-05 D007966 Metachromatic Leukodystrophy, Infant-Type 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 Metachromatic Leukodystrophy, Juvenile-Type 2007-10-05 2007-10-05 D007966 Metachromatic Leukodystrophy, Juvenile-Type 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 Metachromatic Leukodystrophy, Adult-Type 2007-10-05 2007-10-05 D007966 Metachromatic Leukodystrophy, Adult-Type 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 Pelizaeus-Merzbacher Disease 2007-10-05 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). April 11, 2009 Cockayne-Pelizaeus-Merzbacher Disease D020371 Pelizaeus Merzbacher's Disease Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher's Disease 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 http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm Classic Pelizaeus-Merzbacher Disease 2007-10-05 April 11, 2009 Classic Pelizaeus Merzbacher's Disease Classic Pelizaeus-Merzbacher Disease Classic Pelizaeus-Merzbacher's Disease D020371 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 Transitional Pelizaeus-Merzbacher Disease 2007-10-05 April 11, 2009 D020371 Transitional Pelizaeus Merzbacher's Disease Transitional Pelizaeus-Merzbacher Disease Transitional Pelizaeus-Merzbacher's Disease 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 Adult Pelizaeus-Merzbacher Disease 2007-10-05 Adult Pelizaeus-Merzbacher Disease Adult Pelizaeus-Merzbacher's Disease Adult Pelizaeus-Merzbachers Disease April 11, 2009 D020371 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 Progressive Multifocal Leukoencephalopathy 2007-10-05 2007-10-05 An opportunistic viral infection of the central nervous system associated with conditions that impair cell-mediated immunity (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME and other IMMUNOLOGIC DEFICIENCY SYNDROMES; HEMATOLOGIC NEOPLASMS; IMMUNOSUPPRESSION; and COLLAGEN DISEASES). The causative organism is JC Polyomavirus ( JC VIRUS) which primarily affects oligodendrocytes, resulting in multiple areas of demyelination. Clinical manifestations include DEMENTIA; ATAXIA; visual disturbances; and other focal neurologic deficits, generally progressing to a vegetative state within 6 months (MeSH). D007968 JC Polyomavirus Encephalopathy PML Progressive Multifocal Leukoencephalopathy 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 http://www.ninds.nih.gov/disorders/pml/pml.htm Central Pontine Myelinolysis 2007-10-05 2007-10-05 A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition (MeSH). Adams et al., Principles of Neurology, 6th ed, pp1125-6 Central Pontine Myelinolysis D017590 Extrapontine Myelinoclasis Extrapontine Myelinolysis 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 http://www.ninds.nih.gov/disorders/central_pontine_myelinolysis.htm Polyradiculoneuropathy 2007-10-05 2007-10-05 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). Do not confuse with POLYRADICULOPATHY (disease of multiple nerve roots) nor with RADICULOPATHY (disease of a single nerve root) Peripheral Autoimmune Demyelinating Disease Polyneuropathy Polyradiculoneuritis Polyradiculoneuropathy _8.3_3.2 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 Guillain-Barre Syndrome 2007-10-05 2007-10-05 AIDP Acute Autoimmune Neuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Inflammatory Polyneuropathy Acute Inflammatory Polyradiculoneuropathy Adams et al., Principles of Neurology, 6th ed, pp1312-1314 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). D020275 Do not confuse X ref POLYRADICULONEUROPATHY, ACUTE INFLAMMATORY with POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY see POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING Guillain-Barre Syndrome Guillaine-Barre Syndrome Landry-Guillain-Barre Syndrome 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 http://www.ninds.nih.gov/disorders/gbs/gbs.htm Miller Fisher Syndrome 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8 D019846 Fisher Syndrome Guillain Barre Syndrome, Miller Fisher Variant Miller Fisher Syndrome Ophthalmoplegia, Ataxia and Areflexia Syndrome 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. 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 http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm Hereditary Sensory and Autonomic Neuropathies 2007-10-05 2007-10-05 A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation (MeSH). Congenital Insensitivity to Pain with Anhidrosis D009477 Do not confuse with HEREDITARY MOTOR AND SENSORY NEUROPATHIES; for X refs to HSAN types: HSAN TYPE III is see DYSAUTONOMIA, FAMILIAL. HSAN Hereditary Sensory Radicular Neuropathy Hereditary Sensory and Autonomic Neuropathies Joynt, Clinical Neurology, 1995, Ch51, pp142-4 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 http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm Hereditary Sensory Autonomic Neuropathy, Type 1 2007-10-05 2007-10-05 D009477 HSAN Type I HSN Type I Hereditary Sensory Autonomic Neuropathy, Type 1 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 Hereditary Sensory Autonomic Neuropathy, Type 2 2007-10-05 2007-10-05 D009477 HSAN Type II HSN Type II Hereditary Sensory Autonomic Neuropathy, Type 2 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 Hereditary Sensory Autonomic Neuropathy, Type 4 2007-10-05 2007-10-05 D009477 HSAN Type IV HSN Type IV Hereditary Sensory Autonomic Neuropathy, Type 4 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 Hereditary Sensory Autonomic Neuropathy, Type 5 2007-10-05 2007-10-05 D009477 HSAN Type V HSN Type V Hereditary Sensory Autonomic Neuropathy, Type 5 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 Familial Dysautonomia 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4 An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension ( HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons (MeSH). D004402 Do not confuse with DYSAUTONOMIA see AUTONOMIC NERVOUS SYSTEM DISEASES. Dominant Hereditary Sensory Neuropathy, Type 3 Familial Dysautonomia HSAN Type III Hereditary-Sensory and Autonomic Neuropathy Type III Neuropathy, Hereditary and Autonomic, Type III Riley-Day Syndrome 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 http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm Atypical Pelizaeus-Merzbacher Disease 2007-10-05 April 11, 2009 Atypical Pelizaeus Merzbacher's Disease Atypical Pelizaeus-Merzbacher Disease Atypical Pelizaeus-Merzbacher's Disease D020371 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 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1337 CIDP Chronic Inflammatory Demyelinating Polyneuropathy Chronic Inflammatory Demyelinating Polyradiculoneuropathy Chronic Inflammatory Polyradiculoneuropathy Chronic Inflammatory Polyradiculopathy D020277 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#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://www.ninds.nih.gov/disorders/cidp/cidp.htm Subacute Combined Degeneration 2007-10-05 2007-10-05 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). D052879 Subacute Combined Degeneration Subacute Combined Neuropathy Degeneration 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 Motor Neuron Disease 2007-10-05 2007-11-18 Adams et al., Principles of Neurology, 6th ed, p1089 C0085084 D016472 Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy ( BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation (MeSH). Motor Neuron Disease Motor System Disease Note that MeSH includes the following sub-types which cannot easily be specified as subtypes without leading to multiple inheritance (e.g., Anterior Horn Cell Disease; Familial Motor Neuron Disease; Lateral Sclerosis; Lower Motor Neuron Disease; Upper Motor Neuron Disease; Primary Lateral Sclerosis; Secondary Motor Neuron Disease). These subtypes describe either the location within the CNS axis where motor neuron degeneration is observed, the complex temporal development of that degeneration, and the hereditory nature of the disorder. In the course of many specific patient cases, the location of degenerating MNs starts in one location and then procedes to others, as is the case for some of the concrete child classess created for this parent class. In the end, a more detailed OWL representation would need to be employed where the location, timing, and putative casue of degenerating MNs is specified using ObjectProperties, and such subtypes as LOWER MOTOR NEURON DISEASE would then be inferred types. The practical problem with this approach is that terms such as ALS and LOWER MN DISEASE have a particular meaning in a clinical context. Though ALS might be inferred to be a member of the set of LOWER MN DISEASEs, since there is loss of MNs in the lower spinal cord, clinicians typically consider LOWER MN DISEASE to have a distinct set of presenting signs when compared to ALS. Clinicians do not typically consider ALS to be a type of LOWER MN DISEASE (BB: 2007-10-05) _8.3_2.5 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/motor_neuron_diseases/motor_neuron_diseases.htm Amyotrophic Lateral Sclerosis 2007-10-05 A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH). ALS Adams et al., Principles of Neurology, 6th ed, pp1089-94 Amyotrophic Lateral Sclerosis April 11, 2009 D000690 Gehrig's Disease Gehrigs Disease Lou Gehrig Disease Lou Gehrig's Disease Lou Gehrigs Disease _8.3_2.5.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/amyotrophiclateralsclerosis.htm Progressive Bulbar Palsy 2007-10-05 2007-11-18 A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults (MeSH). Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900 Bulbar Palsy Bulbar paralysis C0030442 D010244 Fazio-Londe Syndrome Fazio-Londe's Syndrome Progressive Bulbar Palsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Spinal muscular atrophy 2007-10-05 A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary (MeSH). Adams et al., Principles of Neurology, 6th ed, p1089 Adult Spinal Muscular Atrophy April 11, 2009 Bulbospinal Neuronopathy C0026847 D009134 Distal Spinal Muscular Atrophy Kennedy Syndrome Kennedy's Syndrome Oculopharyngeal Spinal Muscular Atrophy Progressive Myelopathic Muscular Atrophy Progressive Proximal Myelopathic Muscular Atrophy SMA Scapuloperoneal Form of Spinal Muscular Atrophy Spinal Muscular Atrophy _8.3_2.5.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/sma/sma.htm Spinal Muscular Atrophies of Childhood 2007-10-05 A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive (MeSH). April 11, 2009 Bulbospinal Neuronopathy D009134 Infantile, childhood or adolescent: for other, MUSCULAR ATROPHY, SPINAL is available (MeSH). J Med Genet 1996 Apr:33(4):281-3 Kennedy Syndrome Kennedy's Syndrome Progressive Myelopathic Muscular Atrophy Spinal Muscular Atrophies of Childhood 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm Type I Spinal Muscular Atrophy 2007-10-05 2007-11-18 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 C0043116 D014897 HMN Proximal Type I Hereditary Motor Neuropathy Proximal Type I Infantile Spinal Muscular Atrophy J Med Genet 1996 Apr:33(4):281-3 Type I Spinal Muscular Atrophy Type I is fatal in infancy (MeSH). WHD Werdnig-Hoffmann Disease 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Type II Spinal Muscular Atrophy 2007-10-05 2007-11-18 C0393538 D014897 J Med Genet 1996 Apr:33(4):281-3 Late infantile spinal muscular atrophy SMA2 Type II Spinal Muscular Atrophy Type II has a late infantile onset and is associated with survival into the second or third decade (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Type III Spinal Muscular Atrophy 2007-10-05 2007-11-18 C0152109 D014897 J Med Genet 1996 Apr:33(4):281-3 Juvenile Spinal Muscular Atrophy Kugelberg-Welander Disease SMA type III SMA3 Type III Spinal Muscular Atrophy Type III has its onset in childhood and is slowly progressive (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Multiple System Atrophy 2007-10-05 2007-10-05 A specific neurodegenerative syndrome complex; not for atrophy in other systems (BB: 2007-10-05) 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). 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 D019578 Multiple System Atrophy Multiple System Atrophy Syndrome Multisystem Atrophy Multisystemic Atrophy _8.3_2.11 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/msa/msa.htm Olivopontocerebellar Atrophy 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1085 C0028968 D009849 Dejerine-Thomas Syndrome Olivo-Ponto-Cerebellar Atrophy Olivo-Ponto-Cerebellar Degeneration Olivopontocerebellar Atrophies Olivopontocerebellar Atrophy Olivopontocerebellar Atrophy Olivopontocerebellar Degeneration Pontoolivocerebellar Atrophy Presenile Ataxia The MeSH term has the following implied subtypes: Nonfamilial Olivopontocerebellar Atrophy; Idiopathic Olivopontocerebellar Atrophy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/opca/opca.htm Familial Olivopontocerebellar Atrophy 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p1085 D009849 Familial Olivopontocerebellar Atrophy Inherited Olivopontocerebellar Atrophy The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. (BB: 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Shy-Drager Syndrome 2007-10-05 2007-10-05 A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord, which differentiates this condition from other forms of idiopathic orthostatic hypotension ( HYPOTENSION, ORTHOSTATIC). This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with orthostasis and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction (MeSH). Adams et al., Principles of Neurology, 6th ed, p536 D012791 Dysautonomia-Orthostatic Hypotension Syndrome Dysautonomic Orthostatic Hypotension Idiopathic Orthostatic Hypotension, Shy-Drager Type Multiple System Atrophy with Orthostatic Hypotension Progressive Autonomic Failure Shy-Drager Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/striatonigral_degeneration/striatonigral_degeneration.htm Striatonigral Degeneration 2007-10-05 2007-10-05 A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN (MeSH). Adams et al., Principles of Neurology, 6th ed, p1075-6 C0270733 D020955 Striatonigral Atrophy Striatonigral Degeneration 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/msa_orthostatic_hypotension/msa_orthostatic_hypotension.htm Neuromuscular Disease 2007-10-05 2007-11-18 A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA (MeSH). D009468 Neuromuscular Disease _8.3_9 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Autonomic Nervous System Disease 2007-10-05 2007-11-18 ANS Diseases Autonomic Diseases Autonomic Nervous System Disease Autonomic Nervous System Disorders Autonomic Peripheral Nervous System Diseases D001342 Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION (MeSH). Dysautonomia MeSH includes synonyms for two implied sub-types: Pure Autonomic Failure; Segmental Autonomic Dysfunction 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm Parasympathetic Nervous System Disease 2007-10-05 2007-10-05 D001342 Parasympathetic Nervous System Disease 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Holmes-Adie Syndrome 2007-10-05 2007-10-05 Adie Syndrome D000270 Holmes-Adie Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm Autonomic Dysreflexia 2007-10-05 2007-10-05 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 Autonomic Hyperreflexia D020211 Spinal Autonomic Dysreflexia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Complex Regional Pain Syndrome 2007-10-05 2007-10-05 Autonomic Hyperreflexia CRPS Complex Regional Pain Syndrome 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). D020918 Pain 1995 Oct;63(1):127-33 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm Causalgia 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1359 CRPS Type II Causalgia Causalgia Syndrome Complex Regional Pain Syndrome Type II D002422 Deafferentation Pain 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Reflex Sympathetic Dystrophy 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33 Algodystrophic Syndrome Algodystrophy CRPS Type I Cervical Sympathetic Dystrophy Complex Regional Pain Syndrome Type I D012019 RSD Reflex Sympathetic Dystrophy Reflex Sympathetic Dystrophy Syndrome Shoulder-Hand Syndrome Sudek Atrophy Sympathetic Reflex Dystrophia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Horner Syndrome 2007-10-05 2007-10-05 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 Claude Bernard-Horner Syndrome D006732 Horner Syndrome Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11 Miosis, Innervational Defect Oculosympathetic Syndrome Ptosis Sympathetic Sympathetic Ocular-Ophthalmoplegia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm Frey Syndrome 2007-10-05 An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal (MeSH). Ann Neurol 1997 Dec;42(6):973-5 April 11, 2009 Auriculotemporal Syndrome Baillarger Syndrome D013547 Frey Syndrome Frey's Syndrome Freys Syndrome Gustatory Hyperhidrosis Salivosudoriparous Syndrome Sympathetic Ocular-Ophthalmoplegia Von Frey Syndrome Von Frey's Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm Isaacs Syndrome 2007-10-05 A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported (MeSH). Acquired Neuromyotonia Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491 April 11, 2009 Continuous Muscle Activity Syndrome Continuous Myokymia D020386 Gamstorp-Wohlfart Syndrome Isaac Syndrome Isaac's Syndrome Isaacs Syndrome Isaacs-Mertens Syndrome Neuromyotonia Pseudomyotonia Pseudomyotonia Syndrome of Isaacs Quantal Squander 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm Sympathetic Nervous System Diseases 2007-10-05 2007-10-05 D001342 Sympathetic Nervous System Diseases 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neuromuscular Junction Diseases 2007-10-05 2007-10-05 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). D020511 Neuromuscular Junction Diseases Neuromuscular Junction Disorders Neuromuscular Transmission Disorders 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Botulism 2007-10-05 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). Botulism D001906 Toxico-Infectious Botulism 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Lambert-Eaton Myasthenic Syndrome 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, pp 1471 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). D015624 Eaton-Lambert Myasthenic Syndrome Eaton-Lambert Syndrome Lambert-Eaton Myasthenic Syndrome Lambert-Eaton Syndrome Lambert-Eaton's Syndrome Myasthenic-Myopathic Syndrome of Eaton-Lambert Myasthenic-Myopathic Syndrome of Lambert-Eaton _8.3_9.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm 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). Adams et al., Principles of Neurology, 6th ed, p1459 D009157 Myasthenia Gravis Myasthenia Gravis, Generalized _8.3_9.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm Myasthenia Gravis, Ocular 2007-10-05 2007-10-05 D009157 Myasthenia Gravis, Ocular 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 Autoimmune Experimental Myasthenia Gravis 2007-10-05 2007-10-05 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). Autoimmune Experimental Myasthenia Gravis D020720 Experimental Myasthenia Experimental Myasthenia Gravis Joynt, Clinical Neurology, 1997, Ch 54, p3 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/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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neonatal Myasthenia Gravis 2007-10-05 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). Antenatal Myasthenia Gravis D020941 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 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Congenital Myasthenic Syndrome 2007-10-05 2007-10-05 A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor ( RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction (MeSH). Arch Neurol 1999 Feb;56(2):163-7 Congenital Myasthenia Gravis Congenital Myasthenic Syndrome D020294 Do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Postsynaptic Congenital Myasthenic Syndrome 2007-10-05 2007-10-05 D020294 Postsynaptic Congenital Myasthenic Syndrome Slow-Channel Congenital Myasthenic Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Presynaptic Congenital Myasthenic Syndrome 2007-10-05 2007-10-05 D020294 Presynaptic Congenital Myasthenic Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Primary nervous system neoplastic disease 2007-10-05 2007-10-05 D009380 Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves (MeSH). Nerve Tissue Neoplasm Nervous Tissue Neoplasm Primary nervous system neoplastic disease _8.3_10.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Meningioma 2007-10-05 2007-10-05 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). D008579 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). Meningioma _8.3_10.1.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Nerve Sheath Neoplasms 2007-10-05 2007-10-05 D018317 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). Nerve Sheath Neoplasms 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurilemmoma 2007-10-05 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). D009442 DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5 May be benign or malignant. Neurilemmoma Neurilemmosarcoma Neurilemoma Neurinoma Schwannoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurofibroma 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1016 D009455 May be benign or malignant. Neurofibroma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurofibromatosis 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1016 D017253 May be benign or malignant. Multiple Neurofibromas Neurofibromatosis Neurofibromatosis Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurofibroma, Plexiform 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82 D018318 Elephantiasis Neuromatosis Neurofibroma, Plexiform Pachydermatocele Tumor Royale 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurofibromatosis 1 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, pp1014-18 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). D009456 NF1 Neurofibromatosis 1 Neurofibromatosis I Neurofibromatosis Type 1 Neurofibromatosis Type I Recklinghausen Disease of Nerve 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource von Recklinghausen Disease Neurofibromatosis 2 2007-10-05 2007-10-05 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). Bilateral Acoustic Neurofibromatosis Bilateral Acoustic Neuroma Bilateral Acoustic Schwannoma D016518 Familial Acoustic Neuroma NF2 Neurofibromatosis 2 Neurofibromatosis II Neurofibromatosis Type 2 Neurofibromatosis Type II 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurofibrosarcoma 2007-10-05 2007-10-05 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). D018319 DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72 Neurofibrosarcoma Neurogenic Sarcoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neuroma 2007-10-05 2007-10-05 A tumor made up of nerve cells and nerve fibers (MeSH). D009463 Neuroma Stedman, 25th ed 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurothekeoma 2007-10-05 2007-10-05 A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath (MeSH). D018321 Myxoma, Nerve Sheath Neurotheceoma Neurothecoma Neurothekeoma Stedman, 25th ed 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neuroectodermal Neoplasm 2007-10-05 2007-10-05 D017599 Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.(MeSH). Neuroectodermal Neoplasm Neuroectodermal Tumor 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Craniopharyngioma 2007-10-05 2007-10-05 A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH). Craniopharyngioma D003397 Rathke Cleft Neoplasm Rathke Pouch Tumor 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Adamantinous Craniopharyngioma 2007-10-05 2007-10-05 Adamantinous Craniopharyngioma Craniopharyngioma, Child D003397 The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Papillary Craniopharyngioma 2007-10-05 2007-10-05 Craniopharyngioma, Adult D003397 Papillary Craniopharyngioma Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neuroepithelial Neoplasm 2007-10-05 2007-10-05 D018302 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). Neuroepithelial Neoplasm Neuroepithelial Tumor 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Ganglioneuroma 2007-10-05 2007-10-05 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). D005729 Gangliocytoma Ganglioneuroma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Glioma 2007-10-05 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). D005910 Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21 Glial Cell Tumor Glioma _8.3_10.1.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Astrocytoma 2007-10-05 2007-10-05 Astrocytic Glioma Astrocytoma Astroglioma D001254 Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082 Grades I-III go here, with pathol 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). 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 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Glioblastoma 2007-10-05 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). Astrocytoma, Grade IV D005909 Giant Cell Glioblastoma Glioblastoma Glioblastoma Multiforme for GLIOBLASTOMA, RETINAL see RETINOBLASTOMA 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Optic Nerve Glioma 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p681 D020339 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). Glioblastoma Multiforme Malignant Optic Nerve Astrocytoma Optic Glioma Optic Nerve Glioma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Ependymoma 2007-10-05 2007-10-05 D004806 DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9 Ependymoma 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). 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 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Subependymal Glioma 2007-10-05 2007-10-05 Clin Neurol Neurosurg 1997 Feb;99(1):17-22 D004806 Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells (MeSH). Subependymal Astrocytoma Subependymal Glioma Subependymal Gliosis Subependymoma 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 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Ganglioglioma 2007-10-05 2007-10-05 Benign ganglioglioma D018303 Ganglioglioma Intracranial ganglioglioma Malignant ganglioglioma MeSH includes qualified subtypes Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Gliosarcoma 2007-10-05 2007-10-05 Br J Neurosurg 1995 Apr;9(2):171-8 D018316 Glioblastoma with Sarcomatous Component Gliosarcoma Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated (MeSH). Sarcomatous Glioma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Medulloblastoma 2007-10-05 2007-10-05 A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis (MeSH). Adult medulloblastoma Childhood medulloblastoma Circumscribed arachnoidal cerebellar sarcoma D008527 DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1 Desmoplastic medulloblastoma MeSH includes qualified subtypes Medulloblastoma Medullomyoblastoma Melanocytic medulloblastoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Oligodendroglioma 2007-10-05 2007-10-05 A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH). Adult oligodendroglioma Anaplastic oligodendroglioma Childhood oligodendroglioma D009837 DeVita et al., Cancer: Principles and Practice of Oncology, 5th edOncology, p2052; Adams et al., Principles of Neurology, 6th ed, p655 MeSH includes qualified subtypes Mixed Oligodendroglioma-Astrocytoma Mixed Oligodendroglioma-Ependymoma Oligodendroblastoma Oligodendroglioma Well-differentiated oligodendroglioma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurocytoma 2007-10-05 2007-10-05 A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles (MeSH). Acta Med Port 1994 Feb;7(2):113-9 Central Neurocytoma D018306 Neurocytoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Primitive Neuroectodermal Neoplasm 2007-10-05 2007-10-05 A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant (MeSH). D018242 DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059 Ependymoblastoma MeSH includes qualified subtypes. Medulloepithelioma PNET Primitive Neuroectodermal Neoplasm Primitive Neuroectodermal Tumor Primitive Neuroepithelial Neoplasm Primitive Neuroepithelial Tumor Spongioblastoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Peripheral Primitive Neuroectodermal Neoplasm 2007-10-05 2007-10-05 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). D018241 DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2113; J Clin Oncol 1998 Mar;16(3):1150-7 Extracranial Primitive Neuroectodermal Tumor Neuroepithelioma Peripheral Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Neoplasm Peripheral Primitive Neuroectodermal Tumor 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource pPNET Neuroblastoma 2007-10-05 2007-10-05 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). D009447 DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51 Neuroblastoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Olfactory Esthesioneuroblastoma 2007-10-05 2007-10-05 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 D018304 Esthesioneuroblastoma Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33 Olfactory Esthesioneuroblastoma Olfactory Neuroblastoma Paranasal Sinus-Nasal Cavity Esthesioneuroblastoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Ganglioneuroblastoma 2007-10-05 2007-10-05 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). D018305 Ganglioneuroblastoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Pinealoma 2007-10-05 2007-10-05 D010871 DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670 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). Pineal Neoplasm Pineal Parenchymal Tumor Pineal Tumor Pinealocytoma Pinealoma Pineoblastoma Pineocytoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Retinoblastoma 2007-10-05 2007-10-05 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). D012175 DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104 Retinal Glioblastoma Retinal Glioma Retinal Neuroblastoma Retinoblastoma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Familial Retinoblastoma 2007-10-05 2007-10-05 D012175 Familial Retinoblastoma Hereditary Retinoblastoma 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 Sporadic Retinoblastoma 2007-10-05 2007-10-05 D012175 Sporadic Retinoblastoma 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 Dyskinesia 2007-10-05 2007-11-18 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). Asterixis Ballismus D020820 Dyskinesia Hemiballism Hemiballismus Involuntary Movements 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). 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. _8.3_2.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Ataxia 2007-10-05 2007-10-05 Ataxia D001259 Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions (MeSH). _8.3_2.4 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm Paresis 2007-10-05 2007-11-18 A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). "General paresis" and "general paralysis" may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS (MeSH). Brachial Paresis Crural Paresis D010291 Hemiparesis Lower Extremity Paresis MeSH includes qualified subtypes Monoparesis Muscle Paresis Muscular Paresis 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. Paresis Upper Extremity Paresis 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Paralysis 2007-10-05 2007-11-18 Adams et al., Principles of Neurology, 6th ed, p45 D010243 MeSH includes qualified subtypes 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. Palsy Paralysis Plegia Severe loss of motor function as compared with PARESIS, a slight loss; GENERAL PARALYSIS see NEUROSYPHILIS does not mean "generalized paralysis" ( = PARALYSIS); spastic paralysis = PARALYSIS (IM) + MUSCLE SPASTICITY (NIM); flaccid paralysis = PARALYSIS (IM) + MUSCLE FLACCIDITY (NIM) (MeSH). Todd Paralysis _8.3_2.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Metastatic nervous system neoplastic disease 2007-10-05 2007-10-05 Metastatic nervous system neoplastic disease Neoplasms not composed of nerve tissue located in the nervous system or its component nerves. _8.3_10.2 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Nervous System Paraneoplastic Syndrome 2007-10-05 2007-10-05 D020361 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 MeSH includes qualified subtypes Nervous System Paraneoplastic Syndrome 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). Paraneoplastic Autonomic Dysfunction Paraneoplastic Encephalomyelitis _8.3_10.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Limbic Encephalitis 2007-10-05 2007-10-05 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). D020363 Limbic Encephalitis Paraneoplastic 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/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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Paraneoplastic Cerebellar Degeneration 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p686 Anti-Yo-Associated 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). D020362 MeSH includes qualified subtypes Paraneoplastic Cerebellar Degeneration Paraneoplastic Cerebellar Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Paraneoplastic Polyneuropathy 2007-10-05 2007-10-05 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 D020364 Paraneoplastic Neuropathy Paraneoplastic Peripheral Neuropathy Paraneoplastic Polyneuropathy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cerebellar Ataxia 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, p90 Adiadochokinesis Cerebellar Ataxia Cerebellar Dysmetria Cerebellar Hemiataxia Cerebellar Incoordination D002524 Dysmetria 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). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Spinocerebellar Ataxia 2007-10-05 2007-10-05 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). D020754 Dominantly-Inherited Spinocerebellar Ataxia Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43 MeSH includes qualified subtypes Spinocerebellar Ataxia Spinocerebellar Ataxia Type 1 Spinocerebellar Ataxia Type 2 Spinocerebellar Ataxia Type 4 Spinocerebellar Ataxia Type 5 Spinocerebellar Ataxia Type 6 Spinocerebellar Ataxia Type 7 Spinocerebellar Atrophy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm Ataxia Telangiectasia 2007-10-05 2007-10-05 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). Ataxia Telangiectasia Ataxia Telangiectasia Syndrome D001260 Louis-Bar Syndrome Menkes, Textbook of Child Neurology, 5th ed, p688 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/a_t/a-t.htm Machado-Joseph Disease 2007-10-05 A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy (MeSH). April 11, 2009 Autosomal Dominant Striatonigral Degeneration Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96 D017827 Joseph Azorean Disease Joseph Disease Joseph's Disease Josephs Disease Machado-Joseph Azorean Disease Machado-Joseph Disease Machado-Joseph Disease Type I Machado-Joseph Disease Type II Machado-Joseph Disease Type III Machado-Joseph Disease Type IV Machado-Joseph's Disease Machado-Josephs Disease MeSH includes qualified subtypes Nervous System Azorean Disease Spinocerebellar Ataxia Type 3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm Gait Ataxia 2007-10-05 2007-10-05 Ataxia of Gait Cerebellar Gait Cerebellar Gait Ataxia D020234 Gait Ataxia Impairment of the ability to coordinate the movements required for normal ambulation ( WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Athetosis 2007-10-05 A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY (MeSH). Adams et al., Principles of Neurology, 6th ed, p76 April 11, 2009 Athetoid Movements Athetosis D001264 Hammond Disease Hammond's Disease Hammonds Disease 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Catalepsy 2007-10-05 2007-10-05 A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions (MeSH). Anochlesia Catalepsy Cerea Flexibilitas D002375 Flexibility, Waxy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Chorea 2007-10-05 2007-10-05 Chorea Choreic Movement Choreiform Movement D002819 Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES (MeSH). choreoathetosis = CHOREA (IM) + ATHETOSIS (IM); MORVAN'S CHOREA see MYOKYMIA and CHOREATIC DISORDERS are also available 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Dystonia 2007-10-05 2007-10-05 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). Adams et al., Principles of Neurology, 6th ed, p77 D004421 Diurnal Dystonia Do not confuse with MUSCLE HYPERTONIA or MUSCLE HYPOTONIA; DYSTONIC DISORDERS is available Dystonia Limb Dystonia MeSH includes qualified subtypes Muscle Dystonia Paroxysmal Dystonia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Torticollis 2007-10-05 2007-10-05 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). Cervical Dystonia D014103 Intermittent Torticollis MeSH includes qualified subtypes Psychogenic Torticollis Spasmodic Torticollis Torticollis Wryneck 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Hyperkinesis 2007-10-05 2007-10-05 D006948 Do not confuse with MYOKYMIA or ISAACS SYNDROME Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders (MeSH). Generalized Hyperkinesia Hyperkinesia Hyperkinesis Hyperkinetic Movements Motor Hyperactivity 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Hypokinesia 2007-10-05 2007-10-05 Antiorthostatic Hypokinesia Bradykinesia D018476 Hypodynamia Hypokinesia MeSH includes qualified subtypes 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). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Myoclonus 2007-10-05 2007-10-05 Action Myoclonus D009207 Eyelid Myoclonus For "myoclonic seizure" consider MYOCLONUS or EPILEPSY, MYOCLONIC or SPASMS, INFANTILE; note other myoclonus terms are also available Intention 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). Lower Extremity Myoclonus MeSH includes qualified subtypes Myoclonic Jerking Myoclonus Myoclonus Simplex Nocturnal Myoclonus Oculopalatal Myoclonus Palatal Myoclonus Polymyoclonus Segmental Myoclonus Sleep Myoclonus Upper Extremity Myoclonus 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Opsoclonus-Myoclonus Syndrome 2007-10-05 2007-10-05 A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye ( OPSOCLONUS) and the muscle ( MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system (MeSH). D053578 Dancing Eyes-Dancing Feet Syndrome Kinsbourne Syndrome Opsoclonus Myoclonus Ataxia Opsoclonus-Myoclonus Syndrome Paraneoplastic Opsoclonus-Myoclonus Ataxia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.ninds.nih.gov/disorders/opsoclonus_myoclonus/opsoclonus_myoclonus.htm Psychomotor Agitation 2007-10-05 2007-10-05 A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions (MeSH). Akathisia D011595 Do not confuse X ref AKATHISIA with AKATHISIA, DRUG-INDUCED: see note there Psychomotor Agitation Psychomotor Excitement Psychomotor Hyperactivity Psychomotor Restlessness Restlessness 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Synkinesis 2007-10-05 2007-10-05 An involuntary movement accompanying a volitional movement. It often refers to facial movements that accompany FACIAL PARALYSIS (MeSH). D046608 Synkinesis 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Tic 2007-10-05 2007-10-05 Adams et al., Principles of Neurology, 6th ed, pp109-10 D020323 Habit Chorea Habit Spasm Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS (MeSH). Habituation Spasm MeSH includes qualified subtypes Motor Tic Tic Transient Tic Vocal Tic 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Tremor 2007-10-05 2007-10-05 Action Tremor Coarse Tremor Continuous Tremor Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE (MeSH). D014202 Darkness Tremor Fine Tremor Intention Tremor Intermittent Tremor Involuntary Quiver Limb Tremor Massive Tremor MeSH includes qualified subtypes Muscle Tremor Neonatal Tremor Nerve Tremor Passive Tremor Perioral Tremor Persistent Tremor Pill Rolling Tremor Rest Tremor Resting Tremor Saturnine Tremor Semirhythmic Tremor Senile Tremor Static Tremor Tremor 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Nervous System Trauma 2007-10-05 2007-11-18 Craniocervical Injury D020196 Nervous System Injury Nervous System Trauma 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. Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures (MeSH). _8.3_12 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cerebrovascular Trauma 2007-10-05 2007-10-05 Cerebrovascular Trauma D020214 Penetrating and nonpenetrating traumatic injuries to an extracranial or intracranial blood vessel that supplies the brain. This includes the CAROTID ARTERIES, vertebral arteries ( VERTEBRAL ARTERY), and intracranial arteries, veins, and venous sinuses (MeSH). Vascular Brain Injury Vascular Brain Trauma 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Craniocerebral Trauma 2007-10-05 2007-10-05 Craniocerebral Injury Craniocerebral Trauma Crushing Skull Injury D006259 Forehead Trauma Frontal Region Trauma Head Injury Head Trauma MeSH includes qualified subtypes based on the severity, invasiveness, or gross anatomical location of the head injury Minor Head Injury Multiple Head Injury Occipital Region Trauma Open Head Injury Parietal Region Trauma Superficial Head Injury Temporal Region Trauma 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). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Spinal Cord Trauma 2007-10-05 2007-10-05 D013119 MeSH includes qualified subtypes based on the severity or invasiveness of the spinal cord injury Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.) (MeSH). Post-Traumatic Myelopathy Spinal Cord Contusion Spinal Cord Injury Spinal Cord Laceration Spinal Cord Transection Spinal Cord Trauma Traumatic Myelopathy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Mental Disorder 2007-10-05 2007-11-18 Behavior Disorder D001523 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. Psychiatric Disorder 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). _8.3_11 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Adjustment Disorder 2007-10-05 2007-10-05 Adjustment Disorder Anniversary Reaction D000275 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). Reactive Depression Reactive Disorder Transient Situational Disturbance 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Anxiety Disorder 2007-10-05 2007-10-05 Anxiety Disorder Anxiety Neurosis D001008 Neurotic Anxiety State Persistent and disabling ANXIETY (MeSH). _8.3_11.4 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Agoraphobia 2007-10-05 2007-10-05 Agoraphobia D000379 Obsessive, persistent, intense fear of open places (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neurocirculatory Asthenia 2007-10-05 2007-10-05 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). Cardiac Neurosis D009449 Effort Syndrome Hyperkinetic Heart Syndrome Neurocirculatory Asthenia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Obsessive-Compulsive Disorder 2007-10-05 2007-10-05 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). D009771 Obsessive-Compulsive Disorder Obsessive-Compulsive Neurosis 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Phobic Disorder 2007-10-05 2007-10-05 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). Claustrophobia D010698 MeSH includes the following qualified subtypes based on the type of object or experience inducing the fear reaction: ; ; Phobia Phobic Disorder Phobic Neurosis School Phobia Social Phobia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Panic Disorder 2007-10-05 2007-10-05 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). D016584 Panic Attack Panic Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Traumatic Stress Disorder 2007-10-05 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). D040921 Stress Disorder Traumatic Stress Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Combat Disorder 2007-10-05 2007-10-05 Combat Disorder Combat Neurosis D003130 Neurotic reactions to unusual, severe, or overwhelming military stress (MeSH). War Neurosis 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Post-Traumatic Stress Disorder 2007-10-05 2007-10-05 A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH). Acute Post-Traumatic Stress Disorder Chronic Post-Traumatic Stress Disorder D013313 Delayed Onset Post-Traumatic Stress Disorder MeSH includes qualified subtypes based on the time of onset or temporal extent of the stress reaction PTSD Post-Traumatic Neurosis Post-Traumatic Stress Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Acute Traumatic Stress Disorder 2007-10-05 2007-10-05 A class of traumatic stress disorders that is characterized by the significant dissociative states seen immediately after overwhelming trauma. By definition it cannot last longer than 1 month, if it persists, a diagnosis of post-traumatic stress disorder ( STRESS DISORDERS, POST-TRAUMATIC) is more appropriate (MeSH). Acute Stress Disorder Acute Traumatic Stress Disorder D040701 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Central Nervous System Infection 2007-10-05 2007-11-18 Central Nervous System Infection D002494 Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process (MeSH). _8.3_6 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Central Nervous System Bacterial Infection 2007-10-05 2007-10-05 Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces (MeSH). Central Nervous System Bacterial Infection D020806 _8.3_6.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Central Nervous System Fungal Infection 2007-10-05 2007-10-05 Acute Stress Disorder Central Nervous System Fungal Infection Central Nervous System Mycosis D020314 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/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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Central Nervous System Parasitic Infection 2007-10-05 2007-10-05 Central Nervous System Parasitic Infection D020807 Infections of the brain, spinal cord, and meninges caused by parasites, primarily PROTOZOA and HELMINTHS (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Central Nervous System Viral Infection 2007-10-05 2007-10-05 Central Nervous System Viral Infection D020805 Viral CNS Infection Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces (MeSH). _8.3_6.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Prion Disease 2007-10-05 2007-10-05 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). D017096 Inherited Human Transmissible Spongiform Encephalopathy MeSH includes qualified subtype limiting to humans Prion Disease Prion Protein Disease Prion-Induced Disorder Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83 Transmissible Dementia Transmissible Spongiform Encephalopathy _8.3_2.8 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Creutzfeldt-Jakob Syndrome 2007-10-05 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). April 11, 2009 CJD Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Syndrome D007562 Jakob Creutzfeldt Disease Jakob-Creutzfeldt Disease Jakob-Creutzfeldt Syndrome N Engl J Med, 1998 Dec 31;339(27) _8.3_2.8.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Familial Creutzfeldt-Jakob Disease 2007-10-05 2007-10-05 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). D007562 Familial Creutzfeldt-Jakob Disease N Engl J Med, 1998 Dec 31;339(27) 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Variant-Creutzfeldt-Jakob Disease 2007-10-05 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). April 11, 2009 CJD Variant D007562 N Engl J Med, 1998 Dec 31;339(27) New Variant Creutzfeldt-Jakob Disease V-CJD Variant Creutzfeldt-Jakob Disease Variant-Creutzfeldt-Jakob Disease Variant-Creutzfeldt-Jakob's Disease 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Bovine Spongiform Encephalopathy 2007-10-05 2007-10-05 A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME (MeSH). BSE Bovine Spongiform Encephalopathy D016643 Mad Cow Disease Vet Rec 1998 Jul 25;143(41):101-5 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Gerstmann-Straussler-Scheinker Disease 2007-10-05 An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration (MeSH). April 11, 2009 Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75 D016098 Gerstmann-Straussler Inherited Spongiform Encephalopathy Gerstmann-Straussler Syndrome Gerstmann-Straussler-Scheinker Disease Gerstmann-Straussler-Scheinker's Disease 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Fatal Familial Insomnia 2007-10-05 2007-10-05 An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein ( PRIONS) (MeSH). D034062 Fatal Familial Insomnia 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Kuru 2007-10-05 2007-10-05 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). D007729 Kuru Kuru Encephalopathy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Scrapie 2007-10-05 2007-10-05 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). D012608 Rida Scrapie 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Chronic Wasting Disease 2007-10-05 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 D034081 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Tauopathy 2007-10-05 2007-10-05 D024801 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). Tauopathy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Progressive Supranuclear Palsy 2007-10-08 2007-10-08 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). D013494 Progressive Supranuclear Ophthalmoplegia Progressive Supranuclear Palsy Steele-Richardson-Olszewski Disease Steele-Richardson-Olszewski Syndrome _8.3_2.12 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Substance-Related Disorder 2007-10-08 Addiction D019966 Disorder related to substance abuse, the side effects of a medication, toxin exposure, and ALCOHOL-RELATED DISORDERS (MeSH). Drug Abuse Drug Addiction Drug Dependence Drug Habituation Drug Usage Drug Use Disorder Glue Sniffing March 18, 2009 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 Substance Abuse Substance Addiction Substance Dependence Substance Use Disorder Substance-Induced Organic Mental Disorder Substance-Related Disorder _8.3_11.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alcohol-Related Disorder 2007-10-08 2007-10-08 Alcohol-Related Disorder D019973 Disorder related to or resulting from abuse or mis-use of alcohol (MeSH). _8.3_11.1.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alcohol Amnestic Disorder 2007-10-08 2007-10-08 A mental disorder associated with chronic ethanol abuse ( ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention (MeSH). Adams et al., Principles of Neurology, 6th ed, p1139 Alcohol Amnestic Disorder Alcohol Amnestic Syndrome Alcohol-Induced Amnestic Psychosis Alcohol-Induced Amnestic Syndrome Alcohol-Induced Dysmnesic Psychosis Alcohol-Induced Dysmnesic Syndrome D000425 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Korsakoff Syndrome 2007-10-08 2007-10-08 Adams et al., Principles of Neurology, 6th ed, p1139 An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions (MeSH). D019973 Korsakoff Psychosis Korsakoff Syndrome Wernicke-Korsakoff Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alcohol Withdrawal Delirium 2007-10-08 2007-10-08 Adams et al., Principles of Neurology, 6th ed, p1175 Alcohol Withdrawal Associated Autonomic Hyperactivity Alcohol Withdrawal Delirium Alcohol Withdrawal Hallucinosis Alcohol Withdrawal-Induced Delirium Tremens An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens (MeSH). D000430 Delirium Tremens 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alcoholic Intoxication 2007-10-08 2007-10-08 Alcoholic Intoxication An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES (MeSH). D000435 Drunkenness 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alcoholism 2007-10-08 2007-10-08 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 Alcoholism Chronic Alcoholic Intoxication D000437 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 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Metabolic Nervous System Disease 2007-10-08 2007-11-18 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). 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). CNS Metabolic Disorder Central Nervous System Metabolic Disorder D001928 MeSH includes all the listed synonyms with ACQUIRED pre-pended, indicating a non-hereditary subtype. Metabolic Brain Disease Metabolic Brain Disorder Metabolic Brain Syndrome Metabolic Encephalopathy Metabolic Nervous System Disease Metabolic Nervous System Disorder Metabolic Nervous System Syndrome 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. Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, pp208-260 _8.3_7 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Inborn Metabolic Brain Disease 2007-10-08 2007-10-08 Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero (MeSH). D020739 Familial Metabolic Brain Disease Familial Metabolic Brain Disorder Inborn Errors of Metabolism, Brain Inborn Metabolic Brain Disease Inborn Metabolic Brain Disorder Inborn Metabolic CNS Disease Inborn Metabolic CNS Disorder Inborn Metabolic Central Nervous System Disease Inborn Metabolic Central Nervous System Disorder Inborn Metabolic Encephalopathy Inherited Metabolic Brain Disease Inherited Metabolic Brain Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Alcoholic Psychosis 2007-10-08 2007-10-08 A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol (MeSH). Alcoholic Psychosis D011604 This class will utlimately be moved to a position reflecting the effected function, as opposed to one reflecting causation (BB: 2007-10-08) http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#graph_position_temporary http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Wernicke Encephalopathy 2007-10-08 2007-10-08 Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3 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). Cerebral Beriberi D011604 Gayet-Wernicke Encephalopathy This class will utlimately be moved to a position reflecting the effected function, as opposed to one reflecting causation (BB: 2007-10-08) Wernicke Disease Wernicke Encephalopathy Wernicke Syndrome http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#graph_position_temporary http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Amphetamine-Related Disorder 2007-10-08 2007-10-08 Amphetamine Abuse Amphetamine Addiction Amphetamine Dependence Amphetamine Usage Amphetamine-Related Disorder D019969 Disorders related or resulting from use of amphetamines (MeSH). MeSH includes implied components of the overall spectrum of functional manifestations of Amphetamine-Related Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cocaine-Related Disorder 2007-10-08 2007-10-08 Cocaine Abuse Cocaine Addiction Cocaine Dependence Cocaine Usage Cocaine-Related Disorder D019970 Disorders related or resulting from use of amphetamines (MeSH). MeSH includes implied components of the overall spectrum of functional manifestations of Cocaine-Related Disorder _8.3_11.1.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cannabis-Related Disorder 2007-10-08 2007-10-08 Cannabinoid Abuse Cannabis Abuse Cannabis Dependence Cannabis-Related Disorder D002189 Hashish Abuse Marijuana Abuse Marijuana Dependence MeSH includes implied components of the overall spectrum of functional manifestations of Cannabis-Related Disorder The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning (MeSH). _8.3_11.1.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Neonatal Abstinence Syndrome 2007-10-08 2007-10-08 D009357 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). MeSH includes implied components of the overall spectrum of functional manifestations of Neonatal Abstinence Syndrome Neonatal Abstinence Syndrome Neonatal Passive Addiction Neonatal Substance Withdrawal Neonatal Withdrawal Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Opioid-Related Disorder 2007-10-08 2007-10-08 D009293 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 Narcotic Abuse Narcotic Addiction Narcotic Dependence Opiate Addiction Opiate Dependence Opioid-Related Disorder _8.3_11.1.5 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Heroin-Related Disorder 2007-10-08 2007-10-08 D006556 Disorders related or resulting from abuse or mis-use of heroin. Heroin Abuse Heroin Addiction Heroin Dependence Heroin Usage Heroin-Related Disorder 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 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 Morphine-Related Disorder 2007-10-08 2007-10-08 D009021 Disorders related or resulting from abuse or mis-use of morphine. MeSH includes implied components of the overall spectrum of functional manifestations of Morphine-Related Disorder Morphine Abuse Morphine Addiction Morphine Dependence Morphine Usage Morphine-Related Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Nicotine Use Disorder 2007-10-08 2007-10-08 D014029 MeSH includes implied components of the overall spectrum of functional manifestations of Nicotine Use Disorder Nicotine Addiction Nicotine Dependence Nicotine Use Disorder Tobacco Use Disorder Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included (MeSH). _8.3_11.1.4 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 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 Phencyclidine-Related Disorder 2007-10-08 2007-10-08 Angel Dust Abuse D010623 PCP Abuse Phencyclidine-Related Disorder The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Epilepsy 2007-10-08 2007-11-18 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). D004827 Epilepsy Epileptic Seizure 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. Seizure Disorder _8.3_5 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Myoclonic Epilepsy 2007-10-08 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). Cryptogenic Myoclonic Epilepsy D020190 Idiopathic Myoclonic Epilepsy MeSH includes implied subtypes Myoclonic Absence Epilepsy Myoclonic Astatic Epilepsy Myoclonic Encephalopathy Myoclonic Epilepsy Myoclonic Seizure Disorder Symptomatic Myoclonic Epilepsy _8.3_5.2.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Infantile Myoclonic Epilepsy 2007-10-08 2007-10-08 Benign Infantile Myoclonic Epilepsy D004831 Early Childhood Myoclonic Epilepsy Infantile Myoclonic Epilepsy MeSH includes implied subtypes based on disease severity Severe Infantile Myoclonic Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Juvenile Myoclonic Epilepsy 2007-10-08 2007-10-08 A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified (MeSH). Adams et al., Principles of Neurology, 6th ed, p323 Adolescent Myoclonic Epilepsy D020190 Impulsive Petit Mal Epilepsy JME Janz Impulsive Petit Mal Janz Juvenile Myoclonic Epilepsy Janz Syndrome Juvenile Myoclonic Epilepsy Juvenile Myoclonic Epilepsy of Janz 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Progressive Myoclonic Epilepsy 2007-10-08 2007-10-08 A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME (MeSH). Action Myoclonus-Renal Failure Syndrome Atypical Inclusion-Body Disease Biotin-Responsive Encephalopathy D020191 Dentatorubral-Pallidoluysian Atrophy Familial Progressive Myoclonic Epilepsy May-White Syndrome MeSH includes implied subtypes Progressive Myoclonic Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Lafora Progressive Myoclonic Epilepsy 2007-10-08 2007-10-08 A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (MeSH). D020192 Lafora Body Disease Lafora Disease Lafora Progressive Myoclonic Epilepsy Lafora Type Progressive Myoclonic Epilepsy Late Onset Lafora Body Disease MeSH includes the following implied subtypes: Action Myoclonus-Renal Failure Syndrome; Atypical Inclusion-Body Disease; Biotin-Responsive Encephalopathy; Dentatorubral-Pallidoluysian Atrophy; Familial Progressive Myoclonic Epilepsy; May-White Syndrome Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource MERRF Syndrome 2007-10-08 2007-10-08 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). Adams et al., Principles of Neurology, 6th ed, p986 D017243 Fukuhara Disease Fukuhara Syndrome MERRF Syndrome Myoclonic Epilepsy and Ragged Red Fibers Myoclonic Epilepsy with Ragged Red Fibers 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Unverricht-Lundborg Syndrome 2007-10-08 2007-10-08 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). Baltic Myoclonus Baltic Myoclonus Epilepsy D020194 Lundborg-Unverricht Syndrome Mediterranean Myoclonic Epilepsy Menkes, Textbook of Child Neurology, 5th ed, pp109-110 Unverricht Disease Unverricht-Lundborg Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Partial Epilepsy 2007-10-08 2007-10-08 Abdominal Epilepsy Adams et al., Principles of Neurology, 6th ed, pp317 Amygdalo-Hippocampal Epilepsy Childhood Benign Focal Epilepsy Childhood Benign Occipital Epilepsy 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). D004828 Digestive Epilepsy; Gelastic Epilepsy Focal Epilepsy Focal Seizure Disorder Localization-Related Epilepsy MeSH includes implied subtypes Occipital Lobe Epilepsy Partial Epilepsy Partial Seizure Disorder Rhinencephalic Epilepsy Simple Partial Epilepsy Simple Partial Seizure Simple Partial Seizure, Consciousness Preserved Subclinical Seizures Uncinate Seizures _8.3_5.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Simple Partial Epilepsy 2007-10-08 2007-10-08 Adams et al., Principles of Neurology, 6th ed, pp317 D004828 Simple Partial Epilepsy Simple Partial Seizure Simple Partial Seizure, Consciousness Preserved _8.3_5.1.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Complex Partial Epilepsy 2007-10-08 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). Adams et al., Principles of Neurology, 6th ed, pp317-8 Complex Partial Epilepsy Complex Partial Seizure Disorder Cryptogenic Partial Complex Epilepsy D017029 MeSH includes implied subtypes Psychic Equivalent Epilepsy Psychomotor Epilepsy Symptomatic Partial Complex Epilepsy _8.3_5.1.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Frontal Lobe Epilepsy 2007-10-08 2007-10-08 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). Adams et al., Principles of Neurology, 6th ed, pp318-9 Anterior Fronto-Polar Epilepsy Benign Frontal Childhood Epilepsy Cingulate Epilepsy Complex Partial Seizure Disorder D017034 Frontal Lobe Epilepsy MeSH includes implied subtypes Opercular Epilepsy Orbito-Frontal Epilepsy Supplementary Motor Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Motor Partial Epilepsy 2007-10-08 2007-10-08 A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur (MeSH). D020938 Focal Clonic Seizure Focal Motor Epilepsy Focal Tonic Seizure Hemimotor Epilepsy Hemimotor Seizure Disorder MeSH includes implied subtypes Motor Partial Epilepsy Motor Partial Seizure Disorder Motor Seizure Disorder Versive Seizures 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Sensory Partial Epilepsy 2007-10-08 2007-10-08 A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures ( EPILEPSY, COMPLEX PARTIAL) (MeSH). D020937 Focal Sensory Seizure Gustatory Partial Seizure MeSH includes implied subtypes based on effected sensory modality Olfactory Partial Seizure Partial Sensory Seizure Sensory Epilepsy Sensory Focal Seizure Disorder Sensory Partial Epilepsy Sensory Partial Seizure Disorder Sensory Seizure Disorder Simple Partial Seizure, Special Sensory Symptoms Vertiginous Partial Seizure Visual Partial Seizure 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Rolandic Epilepsy 2007-10-08 2007-10-08 An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. The episodes tend to occur at night and may become secondarily generalized. In most cases, affected children are neurologically and developmentally normal. The electroencephalogram shows characteristic high-voltage sharp waves over the central temporal regions, which are more prominent during drowsiness and sleep. In general, seizures do not continue beyond mid-adolescence (MeSH). Benign Childhood Epilepsy With Centro-Temporal Spikes Benign Rolandic Epilepsy Benign Rolandic Epilepsy of Childhood Centralopathic Epilepsy Centrotemporal Epilepsy D019305 Epilepsia 1998 39;Suppl 4:S32-S41 Rolandic Epilepsy Rolands Epilepsy Sylvian Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Temporal Lobe Epilepsy 2007-10-08 2007-10-08 A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH). Adams et al., Principles of Neurology, 6th ed, p321 Childhood Benign Psychomotor Epilepsy D004833 Lateral Temporal Epilepsy Temporal Lobe Epilepsy Uncinate Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Benign Neonatal Epilepsy 2007-10-08 2007-10-08 A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder (MeSH). Adams et al., Principles of Neurology, 6th ed, pp317 Benign Familial Neonatal Epilepsy Benign Neonatal Convulsions Benign Neonatal Epilepsy Benign Non-Familial Neonatal Convulsions D020936 Familial Benign Neonatal Convulsions MeSH includes implied subtypes based on genetic factors. Non-Familial Benign Neonatal Convulsions 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Familial Benign Neonatal Epilepsy 2007-10-08 2007-10-08 D020936 Familial Benign Neonatal Convulsions Familial Benign Neonatal Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Non-Familial Benign Neonatal Epilepsy 2007-10-08 2007-10-08 D020936 Non-Familial Benign Neonatal Convulsions Non-Familial Benign Neonatal Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Generalized Epilepsy "generalized" as opposed to "focal" or partial ( = EPILEPSIES, PARTIAL); prefer specific indentions; note X ref EPILEPSY, TONIC: do not confuse with EPILEPSY, TONIC-CLONIC 2007-10-08 2007-10-08 D004829 Generalized Epilepsy Generalized Onset Seizure Disorder Generalized Seizure Disorder Mayo Clin Proc, 1996 Apr;71(4):405-14 MeSH includes implied subtypes 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). Symptomatic Generalized Epilepsy _8.3_5.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Generalized Convulsive Epilepsy 2007-10-08 2007-10-08 Convulsive Generalized Seizure Disorder D004829 Generalized Convulsive Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Generalized Nonconvulsive Epilepsy 2007-10-08 2007-10-08 D004829 Generalized Nonconvulsive Epilepsy Nonconvulsive Generalized Seizure Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Atonic Epilepsy 2007-10-08 2007-10-08 Akinetic Epilepsy Atonic Epilepsy D004829 _8.3_5.2.4 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Tonic Epilepsy 2007-10-08 2007-10-08 D004829 Tonic Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Absence Epilepsy 2007-10-08 2007-10-08 A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures (MeSH). Absence Epilepsy Absence Seizure Absence Seizure Disorder Akinetic Petit Mal Atonic Absence Seizure Atypical Absence Epilepsy Childhood Absence Epilepsy D004832 Juvenile Absence Epilepsy MeSH includes implied subtypes Menkes, Textbook of Child Neurology, 5th ed, p736 Minor Epilepsy Petit Mal Convulsion Petit Mal Epilepsy Pykno-Epilepsy Pyknolepsy _8.3_5.2.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Tonic-Clonic Epilepsy 2007-10-08 2007-10-08 A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process) (MeSH). Adams et al., Principles of Neurology, 6th ed, p329 Cryptogenic Tonic-Clonic Epilepsy D004830 Grand Mal Convulsions Grand Mal Convulsions Epilepsy Grand Mal Seizure Disorder Grand Mal Seizures Disorder Major Epilepsy Major Motor Seizure Disorder MeSH includes implied subtypes Symptomatic Tonic-Clonic Epilepsy Tonic-Clonic Convulsion Disorder Tonic-Clonic Convulsion Syndrome Tonic-Clonic Convulsions Tonic-Clonic Epilepsy Tonic-Clonic Seizure Disorder Tonic-Clonic Seizure Syndrome _8.3_5.2.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Infantile Spasms 2007-10-08 2007-10-08 An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.) (MeSH). Cryptogenic Infantile Spasms Cryptogenic West Syndrome D013036 Hypsarrhythmia Infantile Spasms Jackknife Seizures Lightning Attacks MeSH includes implied subtypes Menkes, Textbook of Child Neurology, 5th ed, pp744-8 Nodding Spasm Salaam Attacks Salaam Seizures Spasmus Nutans Symptomatic Infantile Spasms Symptomatic West Syndrome West Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Post-Traumatic Epilepsy 2007-10-08 2007-10-08 Concussive Convulsion D004834 Early Post-Traumatic Seizures Impact Seizure Late Post-Traumatic Seizures MeSH includes implied subtypes Post-Traumatic Epilepsy Post-Traumatic Seizure Disorder Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object ( CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries ( HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements (MeSH). Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6 Traumatic Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Reflex Epilepsy 2007-10-08 2007-10-08 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). Audiogenic Epilepsy Cursive Epilepsy D020195 Decision Making Reflex Epilepsy Eating-Induced Epilepsy Immersion Related Epilepsy MeSH includes implied subtypes based on the inducing stimulus Musicogenic Epilepsy Neurol Clin 1994 Feb;12(1):57-8 Photosensitive Epilepsy Reading Epilepsy Reflex Epilepsy Tactile Reflex Epilepsy Visual Pattern Reflex Epilepsy Writing-Induced Reflex Epilepsy 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Landau-Kleffner Syndrome 2007-10-08 2007-10-08 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). Acquired Childhoood Aphasia with Convulsive Disorder Acquired Epileptic Aphasia D018887 Landau-Kleffner Acquired Epileptiform Aphasia Landau-Kleffner Syndrome Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Seizures 2007-10-08 2007-10-08 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). Clonic Seizures Convulsions Convulsive Seizures D012640 Focal Seizures Generalized Seizures Gustatory Seizures Jacksonian Seizure MeSH includes implied subtypes based on the inducing stimulus Motor Seizures Non-Epileptic Convulsion Olfactory Seizures Seizures Sensory Seizures Somatosensory Seizures Tonic Seizures Tonic-Clonic Seizures Vertiginous Seizures Vestibular Seizures Visual Seizures 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Febrile Seizures 2007-10-08 2007-10-08 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). Complex Febrile Seizure D003294 Febrile Convulsion Seizure Febrile Convulsions Febrile Fit Febrile Seizures Fever Convulsion Fever Seizure MeSH includes implied subtypes Pyrexial Convulsion Pyrexial Seizure Simple Febrile Seizure 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Status Epilepticus 2007-10-08 2007-10-08 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). Absence Status Complex Partial Status Epilepticus D013226 Electrographic Status Epilepticus Generalized Convulsive Status Epilepticus Generalized Status Epilepticus Grand Mal Status Epilepticus MeSH includes implied subtypes N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30 Non-Convulsive Status Epilepticus Petit Mal Status Simple Partial Status Epilepticus Status Epilepticus Subclinical Status Epilepticus _8.3_5.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Epilepsia Partialis Continua 2007-10-08 2007-10-08 A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS (MeSH). Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319 Chronic Progressive Epilepsia Partialis Continua D017036 Epilepsia Partialis Continua Kojevnikov's Epilepsy Kojewnikow Syndrome Kozhevnikov Syndrome MeSH includes implied subtypes Progressive Variant Kozhevnikow Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Mood Disorder 2007-10-05 2007-10-05 Affective Disorder D019964 Mood Disorder Those disorders that have a disturbance in mood as their predominant feature. (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource human only; do not confuse with AFFECTIVE SYMPTOMS (MeSH). Affective Psychotic Disorder 2007-10-08 2007-10-08 Affective Psychosis Affective Psychotic Disorder D000341 Disorders in which the essential feature is a severe disturbance in mood (depression, anxiety, elation, and excitement) accompanied by psychotic symptoms such as delusions, hallucinations, gross impairment in reality testing, etc. (MeSH). Psychotic Mood Disorder Reactive Psychotic 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Bipolar Disorder 2007-10-08 2007-10-08 A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH). Affective Bipolar Psychosis Bipolar Depression Bipolar Disorder D001714 Mania Manic Disorder Manic State Manic-Depressive Psychosis MeSH includes implied subcomponents _8.3_11.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cyclothymic Disorder 2007-10-08 2007-10-08 An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood (MeSH). Cyclothymic Disorder Cyclothymic Personality D003527 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Depressive Disorder 2007-10-08 2007-10-08 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). D003866 Depressive Disorder Depressive Neurosis Depressive Syndrome Endogenous Depression Melancholia Neurotic Depression Unipolar Depression _8.3_11.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Postpartum Depression 2007-10-08 2007-10-08 D019052 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 Post-Partum Depression Postpartum 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Major Depressive Disorder 2007-10-08 2007-10-08 D003865 Involutional Depression Involutional Melancholia Involutional Paraphrenia Involutional Psychosis Major Depressive Disorder Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation. (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Dysthymic Disorder 2007-10-08 2007-10-08 Chronically depressed mood that occurs for most of the day more days than not for at least 2 years. The required minimum duration in children to make this diagnosis is 1 year. During periods of depressed mood, at least 2 of the following additional symptoms are present: poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self esteem, poor concentration or difficulty making decisions, and feelings of hopelessness (MeSH). D019263 Dysthymic Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Seasonal Affective Disorder 2007-10-08 2007-10-08 A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. SAD (seasonal affective disorder) can be treated by daily exposure to bright artificial lights ( PHOTOTHERAPY), during the season of recurrence (MeSH). D016574 Seasonal Affective Disorder Seasonal Mood Disorder 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Psychotic Disorder 2007-10-08 2007-10-08 Brief Reactive Psychosis D011618 MeSH includes implied subcomponents Psychosis Psychotic Disorder Schizoaffective Disorder Schizophreniform Disorder Those disorders that have a disturbance in mood as their predominant feature. (MeSH). _8.3_11.5 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Capgras Syndrome 2007-10-08 2007-10-08 A psychotic disorder characterized by the patient's belief that acquaintances or closely related persons have been replaced by doubles or imposters. (MeSH) Capgras Syndrome D002194 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Paranoid Disorder 2007-10-08 2007-10-08 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) D010259 Paranoia Paranoid Disorder Paranoid Psychosis Psychosis http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Catatonic Schizophrenia 2007-10-08 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 D012560 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Disorganized Schizophrenia 2007-10-08 2007-10-08 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) D012562 Disorganized Schizophrenia Dorland, 27th ed Hebephrenic Schizophrenia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Paranoid Schizophrenia 2007-10-08 2007-10-08 A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination (MeSH) D012563 Delusional Disorder Paranoid Schizophrenia http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Shared Paranoid Disorder 2007-10-08 2007-10-08 A condition in which two closely related persons, usually in the same family, share the same delusions. (MeSH) D012753 Folie a Deux Folie a Trois Shared Paranoid Disorder Shared Psychotic Disorder http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Pervasive Development Disorder 2007-10-08 2007-10-08 D002659 Pervasive Child 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/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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Asperger Syndrome 2007-10-08 2007-10-08 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). Asperger Syndrome Asperger's Disorder D020817 DSM-IV 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Rett Syndrome 2007-10-08 2007-10-08 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). Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia D015518 Menkes, Textbook of Child Neurology, 5th ed, p199 Rett Disorder Rett Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Consciousness Disorder 2007-10-08 2007-10-08 Altered Level of Consciousness Consciousness Disorder D003244 Depressed Level of Consciousness Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition (MeSH). Semiconsciousness _8.3_17 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Unconsciousness 2007-10-08 2007-10-08 D014474 Loss of Consciousness Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition (MeSH). Unconscious State Unconsciousness 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Coma 2007-10-08 2007-10-08 A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION. This includes Feigned coma or psychogenic coma. These patients appear comatose (i.e., unresponsive, unarousable, or both) but have no structural lesion, metabolic or toxic disorder (MeSH). Coma Comatose D003128 Loss of Consciousness Pseudocoma _8.3_17.3 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Persistent Vegetative State 2007-10-08 2007-10-08 D018458 MeSH includes implied subtypes PVS Permanent Vegetative State Persistent Vegetative State Postcomatose Unawareness State Posttraumatic Unawareness State Posttraumatic Vegetative State Prolonged Posttraumatic Unawareness Transient Vegetative State Vegetative State Vegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathing) persist, but awareness (including all cognitive function and emotion) is abolished (MeSH). _8.3_17.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Stupor 2007-10-08 2007-10-08 A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY (MeSH). D053608 Narcosis Stupor 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Syncope 2007-10-08 2007-10-08 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). Adams et al., Principles of Neurology, 6th ed, pp367-9 Cardiogenic Syncope Carotid Sinus Syncope Convulsive Syncope D013575 Deglutitional Syncope Drop Attack Effort Syncope Hyperventilation Syncope MeSH includes implied subtypes based mostly on cause Micturition Syncope Postural Syncope Situational Syncope Stokes-Adams Syncope Syncopal Episode Syncopal Vertigo Syncope Tussive Syncope 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Vasovagal Syncope 2007-10-08 2007-10-08 Cerebral Syncope D019462 Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation (MeSH). Malignant Neurocardiogenic Syncope Neurally Mediated Faint Neurally-Mediated Vasovagal Syncope Neurocardiogenic Syncope Neurogenic Syncope Supine Syncope Vasodepressor Syncope Vasovagal Syncope 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Minimally Conscious State 2007-10-08 2007-10-08 D018458 Minimally Conscious State _8.3_17.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Muscular Disease 2007-10-08 2007-10-08 Acquired, familial, and congenital disorders of skeletal muscle ( MUSCLE, SKELETAL) and smooth muscle ( MUSCLE, SMOOTH) (MeSH). D009135 Muscle Disorder Muscular Disease Myopathy 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. _8.3_8 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cerebrovascular Disorder 2007-10-08 2007-11-18 A broad category of disorders characterized by impairment of blood flow in the arteries and veins which supply the brain. These include CEREBRAL INFARCTION; BRAIN ISCHEMIA; HYPOXIA, BRAIN; INTRACRANIAL EMBOLISM AND THROMBOSIS; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; and VASCULITIS, CENTRAL NERVOUS SYSTEM. In common usage, the term cerebrovascular disorders is not limited to conditions that affect the cerebrum, but refers to vascular disorders of the entire brain including the DIENCEPHALON; BRAIN STEM; and CEREBELLUM (MeSH). Brain Vascular Disorder Cerebrovascular Disorder Cerebrovascular Insufficiency D002561 Intracranial Vascular 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. _8.3_1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Brain Ischemia 2007-10-08 2007-10-08 Brain Ischemia Cerebral Ischemia D002545 Ischemic Brain Injury Ischemic Encephalopathy Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia ( HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION (MeSH). _8.3_1.1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cerebrovascular Accident 2007-10-08 2007-10-08 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). Adams et al., Principles of Neurology, 6th ed, pp777-810 Apoplexy CVA Cerebral Stroke Cerebrovascular Accident Cerebrovascular Apoplexya Cerebrovascular Stroke D020521 Stroke _8.3_1 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Brain Infarction 2007-10-08 2007-10-08 Anterior Cerebral Circulation Infarction Anterior Circulation Brain Infarction Brain Infarction D020520 Lacunar Infarction MeSH includes implied subtypes based on the effected vessels Posterior Circulation Brain Infarction 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). Venous Brain Infarction 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Brain Stem Infarction 2007-10-08 2007-10-08 Brain Stem Infarction Brainstem Stroke D020526 Infarctions that occur in the brain stem which is comprised of the midbrain, pons, and medulla. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Claude Syndrome 2007-10-08 2007-10-08 Anatomical location: Midbrain Tegmentum; Vasculature: Posterior cerebral artery; Symptoms: Ataxia - arm and leg - also Oculomotor palsy with contralateral tremor and ataxia Claude Syndrome D020526 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.strokecenter.org/prof/syndromes/syndromePage15.htm Foville Syndrome 2007-10-08 2007-10-08 Anatomical location: Pons - Unilateral lesion in the dorsal pontine tegmentum in the caudal third of the pons; 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 D020526 Foville Syndrome Inferior medial pontine syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.strokecenter.org/prof/syndromes/syndromePage24.htm Millard-Gubler Syndrome 2007-10-08 2007-10-08 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 D020526 Millard-Gubler Syndrome Ventral pontine syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.strokecenter.org/prof/syndromes/syndromePage23.htm Weber Syndrome 2007-10-08 2007-10-08 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 D020526 Weber Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.strokecenter.org/prof/syndromes/syndromePage11.htm Wallenberg Syndrome 2007-10-08 2007-10-08 D014854 Dorsolateral Medullary 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 Bulbar syndrome Lateral medullary syndrome Posterior Inferior Cerebellar Artery Syndrome Vieseaux-Wallenberg Syndrome Wallenberg Syndrome 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource http://www.strokecenter.org/prof/syndromes/syndromePage9.htm Cerebral Infarction 2007-10-08 2007-10-08 Anterior Choroidal Artery Infarction Cerebral Infarction D002544 Left Hemisphere Cerebral Infarction MeSH includes implied subtypes based mostly on gross anatomical location or effected vessel Right Hemisphere Cerebral Infarction Subcortical Infarction The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction) (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Anterior Cerebral Artery Infarction 2007-10-08 2007-10-08 ACA Infarction Adams et al., Principles of Neurology, 6th ed, pp789-93 An infarction in the vascular distribution of the anterior cerebral artery which supplies the majority of the medial surface of the cerebral hemispheres, and provides branches (including Heubner's artery) to the anterior limb of the internal capsule, head of the CAUDATE NUCLEUS, and anterior GLOBUS PALLIDUS. Clinical manifestations may include contralateral lower extremity weakness and sensory loss. Bilateral anterior cerebral artery infarctions are associated with abulia, PARAPLEGIA, and URINARY INCONTINENCE (MeSH). Anterior Cerebral Artery Circulation Infarction Anterior Cerebral Artery Distribution Infarction Anterior Cerebral Artery Infarction Anterior Cerebral Artery Stroke Anterior Cerebral Artery Syndrome D020243 Heubner Artery Infarction 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Middle Cerebral Artery Infarction 2007-10-08 2007-10-08 Adams et al., Principles of Neurology, 6th ed, pp793-8 D020244 Left Middle Cerebral Artery Infarction MCA Infarction MeSH includes implied subtypes based mostly on cause or effected vessel Middle Cerebral Artery Circulation Infarction Middle Cerebral Artery Embolic Infarction Middle Cerebral Artery Embolus Middle Cerebral Artery Infarction Middle Cerebral Artery Occlusion Middle Cerebral Artery Stroke Middle Cerebral Artery Syndrome Middle Cerebral Artery Thrombosis Middle Cerebral Artery Thrombotic Infarction Right Middle Cerebral Artery Infarction The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction) (MeSH). 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Posterior Cerebral Artery Infarction 2007-10-08 2007-10-08 Adams et al., Principles of Neurology, 6th ed, p786 D020762 Formation of an area of coagulation necrosis induced by ischemia in the vascular distribution of the posterior cerebral artery. This artery supplies portions of the MESENCEPHALON (see also BRAIN STEM INFARCTIONS) and thalamus, inferomedial TEMPORAL LOBE, and medial OCCIPITAL LOBE. Clinical manifestations vary with the size and location of infarction, but include a variety of midbrain and thalamic syndromes, HEMIANOPSIA, and behavioral syndromes related to memory and processing visual information (MeSH). MeSH includes the following implied subtypes based mostly on cause or effected vessel: ; PCA Infarction Posterior Cerebral Artery Embolic Infarction Posterior Cerebral Artery Infarction Posterior Cerebral Artery Stroke Posterior Cerebral Artery Syndrome Posterior Cerebral Artery Thrombotic Infarction 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Cerebral Hemorrhage 2007-10-08 2007-10-08 Bleeding into a cerebral hemisphere of the brain, including lobar, subcortical white matter, and basal ganglia hemorrhages. Commonly associated conditions include HYPERTENSION; INTRACRANIAL ARTERIOSCLEROSIS; INTRACRANIAL ANEURYSM; CRANIOCEREBRAL TRAUMA; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; CEREBRAL AMYLOID ANGIOPATHY; and CEREBRAL INFARCTION (MeSH). Cerebral Brain Hemorrhage Cerebral Hemorrhage Cerebral Parenchymal Hemorrhage Cerebrum Hemorrhage D002543 Intracerebral Hemorrhage _8.3_1.2 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Nervous system disease 2007-11-18 2007-11-18 C0027765 D009422 Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle (MeSH). Nervous system disease Nervous system 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. 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Eye disease * Diseases or defects of the eye. Use VISION DISORDERS for other pathology involving visual neural pathways. (PSY) * impairment of health or a condition of abnormal functioning of the organ of sight. (CSP) 2007-11-18 2007-11-18 C0015397 D005128 Disease of eye Eye disease Eye 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. Occular disease Ophthalmic disorder Ophthalmological disorder 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Retinal disease 2007-11-18 2007-11-18 C0035309 D012164 Pathologic condition of the innermost of the three tunics of the eyeball or retina. (CSP) Retinal disease 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource retinal disorder retinopathia retinopathy Retinal degeneration * 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 C0035304 D012162 Generalized retinal degeneration Newell, Ophthalmology: Principles and Concepts, 7th ed, p304 Ophthalmoplegic-retinal degeneration syndrome Retinal degeneration degeneration of retina 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Paving stone retinal degeneration 2007-11-18 2007-11-18 C0154854 Cobblestone retinal degeneration Paving stone retinal degeneration 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#UMLS Deafmutism-retinal degeneration syndrome 2007-11-18 2007-11-18 C0271504 Dalinas-Amalric syndrome Deafmutism-retinal degeneration syndrome Diallinas-Amalric syndrome 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#UMLS Glaucomatous retinal degeneration 2007-11-18 2007-11-18 C0521686 Glaucomatous retinal degeneration Glaucomatous retinal degeneration syndrome 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#UMLS Myopic chorioretinal atrophy 2007-11-18 2007-11-18 C0339422 Gross myopic retinal degeneration Myopic chorioretinal atrophy Myopic chorioretinal atrophy disorder Myopic chorioretinal degeneration Peripheral myopic atrophy 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#UMLS Retinal lattice degeneration 2007-11-18 2007-11-18 C0154856 Lattice retinal degeneration Palisade degeneration of retina Retinal lattice degeneration Retinal lattice degeneration disorder 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#UMLS Multifocal retinal degeneration 2007-11-18 2007-11-18 C0521689 Multifocal retinal degeneration Multifocal retinal degeneration disorder 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#UMLS Peripheral retinal degeneration 2007-11-18 2007-11-18 C1320640 Peripheral degeneration of retina Peripheral retinal degeneration Peripheral retinal degeneration disorder 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#UMLS Snowflake retinal degeneration 2007-11-18 2007-11-18 C0339443 Snowflake retinal degeneration Snowflake retinal degeneration disorder 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#UMLS Peripheral snowflake retinal degeneration 2007-11-18 2007-11-18 C0344291 Peripheral snowflake retinal degeneration Peripheral snowflake retinal degeneration disorder Snowflake retinal degeneration 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#UMLS Snail-track retinal degeneration 2007-11-18 2007-11-18 C0339442 Snail-track retinal degeneration Snail-track retinal degeneration disorder 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#UMLS Sudden acquired retinal degeneration 2007-11-18 2007-11-18 C0521690 Sudden acquired retinal degeneration Sudden acquired retinal degeneration disorder 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#UMLS Macular degeneration * 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) 2007-11-18 2007-11-18 C0024437 D008268 Maculadegeneration Macular degeneration 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Age-related macular degeneration 2007-11-18 2007-11-18 AMD ARMD Age related maculopathy Age-related macular degeneration C0242383 Degeneration of macula and posterior pole SMD Senile macular degeneration Senile macular degeneration of retina 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#UMLS Dry senile macular retinal degeneration 2007-11-18 2007-11-18 Atrophic age-related macular degeneration Atrophic senile macular retinal degeneration C0271083 Dry senile macular retinal degeneration Geographic atrophy of macula Nonexudative age-related macular degeneration Nonexudative age-related macular degeneration disorder Nonexudative senile macular degeneration Nonexudative senile macular retinal degeneration disorder Nonneovascular age-related macular degeneration 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#UMLS Cystoid macular retinal degeneration 2007-11-18 2007-11-18 C0154850 C0546382 Central cystoid Retinal Edema Cystoid Macular Edema Cystoid macular retinal degeneration D008269 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 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 Wet senile macular retinal degeneration 2007-11-18 2007-11-18 C0271084 Disciform senile macular retinal degeneration Exudative age-related macular degeneration disorder Exudative senile macular degeneration of retina Exudative senile macular retinal degeneration Junius-Kuhnt degeneration Kuhnt-Junius degeneration Kuhnt-Junius degeneration disorder Subretinal neovascularization of macula Wet senile macular retinal degeneration 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#UMLS Familial macular degeneration 2007-11-18 2007-11-18 Familial macular degeneration http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Familial juvenile macular degeneration 2007-11-18 2007-11-18 C0271093 FFM Familial juvenile macular degeneration Familial juvenile macular degeneration syndrome Fundus flavimaculatus Stargardts disease 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#UMLS Familial pseudoinflammatory macular degeneration 2007-11-18 2007-11-18 C0520726 Familial pseudoinflammatory macular degeneration Familial pseudoinflammatory macular degeneration disorder Sorsbys macular degeneration 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#UMLS Retinal drusen 2007-11-18 2007-11-18 C0035312 Colloid bodies in retina Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. D015593 Degenerative drusen of retina Drusen of retina Retinal drusen 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 http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource Retinitis Pigmentosa * hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field. (MSH) * group of inherited abnormalities in the retina; characterized by night blindness, retinal atrophy, weakening of the retinal vessels, pigment clumping, and contraction of the visual field. (CSP) 2007-11-18 2007-11-18 C0035334 Chorioretinal heredodystrophy D012174 Pigmentary retinopathy Retinitis Pigmentosa Rod cone Dystrophy Tapetoretinal degeneration 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Usher 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) 2007-11-18 April 11, 2009 C0271097 D052245 DRD Graefe-Usher syndrome Hallgren syndrome Hallgren's syndrome Hallgrens syndrome Retinitis pigmentosa-deafness syndrome US Usher Syndrome Usher's Syndrome Ushers Syndrome dystrophia retinae pigmentosa-dysostosis syndrome dystrophia retinae-dysacousis syndrome 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource retinitis pigmentosa-congenital deafness syndrome Multisystem disease 2007-11-18 2007-11-18 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. http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated Usher syndrome type I 2007-11-18 2007-11-18 C0339533 C1568247 D052245 Usher syndrome type 1 Usher syndrome type I Usher's syndrome type 1 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#UMLS Usher syndrome type II 2007-11-18 2007-11-18 C0339534 C1568249 D052245 Usher syndrome type 2 Usher syndrome type II Usher's syndrome type II 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Usher syndrome type III 2007-11-18 2007-11-18 C1568248 D052245 Usher syndrome type 3 Usher syndrome type III Usher's syndrome type III 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Kearns-Sayer Syndrome 2007-11-18 2007-11-18 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. Adams et al., Principles of Neurology, 6th ed, p984 C0022541 D007625 KSS Kearn-Sayre Mitochondrial Cytopathy Kearns Syndrome Kearns-Sayer Syndrome Kearns-Sayre-Shy-Daroff Syndrome Mitochondrial ocular myopathy Pigmentary degeneration of the retina plus heart block syndrome 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#UMLS http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource Retinoschisis 2007-11-18 2007-11-18 A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis. Breaks in retinoschisis Bullous retinoschisis C0152439 D041441 Diffuse peripheral retinoschisis Flat retinoschisis Macular and peripheral retinoschisis Macular retinoschisis Peripheral retinoschisis RS Retinoschisis Retinoschisis disorder Retinoschisis inner leaf break Retinoschisis outer leaf break Schisis of retina Senile retinoschisis 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_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS X-Linked Retinoschisis 2007-11-18 2007-11-18 C0271091 D041441 Juvenile retinoschisis Retinoschisis disorder 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 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_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Congenital retinoschisis 2007-11-18 2007-11-18 C0344551 Congenital retinoschisis Congenital retinoschisis disorder 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#UMLS Degenerative Retinoschis 2007-11-18 2007-11-18 C1137478 Degenerative Retinoschis Splitting of the RETINA into two layers at the level of the outer plexiform layer, beginning as a cystic degeneration in the extreme retinal periphery. It usually occurs after 40 years of age and is generally not progressive. 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_defSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS 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). * 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). 2008-01-18 Adult Neuronal Ceroid Lipofuscinosis April 27, 2010 Batten Batten Disease Batten's Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Battens Disease C0751383 D009472 Jansky-Bielschowsky Disease Juvenile Cerebroretinal Degeneration Kufs Disease MeSH includes several implied subtypes based primarily on causation Neuronal Ceroid Lipofuscinosis Santavuori-Haltia Disease 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 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Bill_Bug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource http://www.ninds.nih.gov/disorders/batten/batten.htm Neurodegenerative disease 2006-07-15 2007-11-18 D019636 Degenerative Neurologic Disease 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 Neurodegenerative Disorder Neurodegenerative disease Neurologic Degenerative Condition 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. _8.3_2 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BIRN_OTF 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 Alzheimers disease 2006-04-04 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) AD Acute Confusional Senile Dementia Adams et al., Principles of Neurology, 6th ed, pp1049-57 Alzheimer Dementia Alzheimer Senile Dementia Alzheimer Type Dementia Alzheimer Type Senile Dementia Alzheimer disease Alzheimer's Alzheimer's Dementia Alzheimer's disease Alzheimers Alzheimers disease April 11, 2009 C0002395 D000544 Early Onset Alzheimer Disease Focal Onset Alzheimer's Disease Late Onset Alzheimer Disease MeSH includes implied subtypes based mostly on chronological time of onset Presenile Dementia Primary Senile Degenerative Dementia _8.3_2.1 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BIRN_OTF http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#curation_complete 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.ninds.nih.gov/disorders/alzheimersdisease/alzheimersdisease.htm Parkinsons disease * 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) 2007-03-05 C0030567 Idiopathic PD Idiopathic Parkinson Disease June 24, 2009 Lewy Body Parkinson Disease MeSH includes several implied subtypes based primarily on causation PD Paralysis Agitans Parkinson disease Parkinson syndrome Parkinson's Parkinson's disease Parkinson's syndrome Parkinsonian disorder Parkinsons Parkinsons disease Primary Parkinsonism _8.3_2.7 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Bill_Bug http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS_defSource http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm Schizophrenia 2006-06-01 2007-10-08 A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, hallucinations, emotional disharmony, and regressive behavior. (MeSH) C0036341 Dementia Praecox Schizophrenia Schizophrenic Disorder _8.3_11.6 http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#Jessica_Turner http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#UMLS Traumatic brain injury Traumatic brain injury (TBI), also known as intracranial injury, occurs when an external force traumatically injures the brain. TBI can be classified based on severity, mechanism (closed or penetrating head injury), or other features (e.g. occurring in a specific location or over a widespread area). Head injury usually refers to TBI, but is a broader category because it can involve damage to structures other than the brain, such as the scalp and skull. (Wikipedia) May 17, 2012 intracranial injury TBI 174637 http://purl.bioontology.org/ontology/MSH/D001930 tbi Neuropathy August 20, 2012 Maryann Martone Medical term referring to disorders of the nerves of the peripheral nervous system (specifically excluding encephalopathy and myelopathy, which pertain to the central nervous system.) It is usually considered equivalent to peripheral neuropathy, which is defined as deranged function and structure of peripheral motor, sensory, and autonomic neurons, involving either the entire neuron or selected levels. According to some sources, a disorder of the cranial nerves can be considered a neuropathy. - adapted from Wikipedia Giant axonal neuropathy A progressive hereditary disease that affects the peripheral and central nervous systems. It is characterized morphologically by aggregates of intermediate filaments in different tissues. Mutations have been reported in the gene that codes for gigaxonin. Morphologically, GAN is characterized by the presence of giant axons filled with densely packed accumulations of neurofilaments (NF). Affected axons have a thin myelin sheath, do not transmit signals properly, and eventually perish. Unique to GAN is that in addition to the inclusions in neurons, astrocytes can be filled with glial filament bodies, fibroblasts with vimentin clusters and muscle fibers with desmin accumulations. August 20, 2012 C1850386 GAN Maryann Martone Mussche S et al. (2012) Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. Muscle Nerve 46: 246-56 Pick's Disease August 11, 2009 Jane Bugea Picks Disease Neuronal intranuclear hyaline inclusion disease February 17, 2010 Maryann Martone NIHID Neuronal intranuclear hyaline inclusion disease is a rare neurodegenerative disease characterized pathologically by the presence of eosinophilic intranuclear inclusions in neuronal cells intranuclear inclusion body disease neuronal intranuclear inclusion disease Tic disorder American Psychiatric Association (2000). "Diagnostic criteria for tic disorders". Diagnostic and Statistical Manual of Mental Disorders, 4th ed., text revision (DSM-IV-TR), ISBN 0890420254. Retrieved on July 22, 2008. March 19, 2010 Tic disorders are defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM) based on type (motor or phonic) and duration of tics (sudden, rapid, nonrhythmic, stereotyped, involuntary movements). Tic disorders are defined similarly by the World Health Organization (ICD-10 codes).\\n\\nDSM-IV-TR diagnosis codes for the tic disorders are:\\n\\n307.20 Tic Disorder NOS (Not Otherwise Specified)\\n\\n307.21 Transient Tic Disorder\\n\\n307.22 Chronic Motor or Vocal Tic Disorder\\n\\n307.23 Tourette's Disorder\\n\\n\\nICD10 diagnosis codes are:\\n\\nF95.0 Transient tic disorder\\n\\nF95.1 Chronic motor or vocal tic disorder\\n\\nF95.2 Combined vocal and multiple motor tic disorder (de la Tourette)\\n\\nF95.8 Other tic disorders\\n\\nF95.9 Tic disorder, unspecified, Tic disorders are defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM) based on type (motor or phonic) and duration of tics (sudden, rapid, nonrhythmic, stereotyped, involuntary movements). Tic disorders are defined similarly by the World Health Organization (ICD-10 codes).\\\\n\\\\nDSM-IV-TR diagnosis codes for the tic disorders are:\\\\n\\\\n307.20 Tic Disorder NOS (Not Otherwise Specified)\\\\n\\\\n307.21 Transient Tic Disorder\\\\n\\\\n307.22 Chronic Motor or Vocal Tic Disorder\\\\n\\\\n307.23 Tourette's Disorder\\\\n\\\\n\\\\nICD10 diagnosis codes are:\\\\n\\\\nF95.0 Transient tic disorder\\\\n\\\\nF95.1 Chronic motor or vocal tic disorder\\\\n\\\\nF95.2 Combined vocal and multiple motor tic disorder (de la Tourette)\\\\n\\\\nF95.8 Other tic disorders\\\\n\\\\nF95.9 Tic disorder, unspecified, Tic disorders are defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM) based on type (motor or phonic) and duration of tics (sudden, rapid, nonrhythmic, stereotyped, involuntary movements). Tic disorders are defined similarly by the World Health Organization (ICD-10 codes).\n\nDSM-IV-TR diagnosis codes for the tic disorders are:\n\n307.20 Tic Disorder NOS (Not Otherwise Specified)\n\n307.21 Transient Tic Disorder\n\n307.22 Chronic Motor or Vocal Tic Disorder\n\n307.23 Tourette's Disorder\n\n\nICD10 diagnosis codes are:\n\nF95.0 Transient tic disorder\n\nF95.1 Chronic motor or vocal tic disorder\n\nF95.2 Combined vocal and multiple motor tic disorder (de la Tourette)\n\nF95.8 Other tic disorders\n\nF95.9 Tic disorder, unspecified Chronic Tic Disorder Chronic tic disorder is either single or multiple motor or phonic tics, but not both, which are present for more than a year. Evidente VG. "Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders". Postgraduate medicine108 (5): 175-6, 179-82. PMID 11043089 Retrieved on 2007-05-24 March 19, 2010 Tourette's Disorder Both multiple motor and one or more vocal tics have been present at some time during the illness. A tic is a sudden rapid recurrent, non rhythmic, stereotyped motor movement or vocalization.\n\nTourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French noblewoman., Both multiple motor and one or more vocal tics have been present at some time during the illness. A tic is a sudden rapid recurrent, non rhythmic, stereotyped motor movement or vocalization.\\\\n\\\\nTourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French noblewoman., Both multiple motor and one or more vocal tics have been present at some time during the illness. A tic is a sudden rapid recurrent, non rhythmic, stereotyped motor movement or vocalization.\\n\\nTourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French noblewoman. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Gilles de la Tourette syndrome March 19, 2010 TS Tourette Disorder Tourette syndrome Tourette's Syndrome Tourettes Disorder http://medical-dictionary.thefreedictionary.com/Tourette+syndrome Transient Tic Disorder Evidente VG. "Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders". Postgraduate medicine108 (5): 175-6, 179-82. PMID 11043089 Retrieved on 2007-05-24 March 19, 2010 Transient tic disorder consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. Charcot Marie Tooth disease A common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States, comprising a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. (adapted from NINDS disease pages) CMT HMSN March 17, 2010 hereditary motor and sensory neuropathy http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm peroneal muscular atrophy Eating disorder A type of disorder involving the results of eating behavior, e.g., eating too much or eating too little. Eating disorder Eating related disorder Eating-related disorder March 18, 2009 Obesity This can be considered a proxy class for conditions like obesity which really are more qualities than diseases; but until the correct classification is in place, we will use it because it is useful. (Maryann Martone, February, 2009) Obesity An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher. March 18, 2009 Obesity http://en.wikipedia.org/wiki/Obesity Morbid obesity April 8, 2010 Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight. March 18, 2009 Morbid obesity Obesity Mental retardation disorder According to the latest edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), there are three criteria before a person is considered to have a mental retardation: an IQ below 70, significant limitations in two or more areas of adaptive behavior (as measured by an adaptive behavior rating scale, i.e. communication, self-help skills, interpersonal skills, and more), and evidence that the limitations became apparent before the age of 18. Maryann Martone May 14, 2009 Downs syndrome A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia) Down syndrome Down's syndrome Maryann Martone May 14, 2009 Trisomy 21 Fragile X syndrome Escalante's syndrome FRAXA syndrome Fragile X syndrome is an X linked inherited form of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. The majority of males with fragile X syndrome will have a significant intellectual disability. The spectrum ranges from learning disabilities to severe mental retardation and autism. In addition, males have a variety of physical and behavioral characteristics, including enlarged ears, long face with prominent chin, and large testicles (in post pubertal males). Connective tissue problems may include ear infections, mitral valve prolapse, flat feet, double-jointed fingers, hyperflexible joints and a variety of skeletal problems. Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli. The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the behavioral or physical features. (from http://www.fragilex.org/) June 20, 2009 Marker X syndrome Martin-Bell syndrome Maryann Martone Fetal alcohol syndrome A condition occurring in FETUS or NEWBORN due to in utero ETHANOL exposure when mother consumed alcohol during PREGNANCY. It is characterized by a cluster of irreversible BIRTH DEFECTS including abnormalities in physical, mental, and behavior development (such as FETAL GROWTH RETARDATION; MENTAL RETARDATION; ATTENTION DEFICIT AND DISRUPTIVE BEHAVIOR DISORDERS) with varied degree of severity in an individual.(MeSH) D005310 FAS June 21, 2009 Maryann Martone Kennedy Syndrome 140443 Bulbospinal Neuronopathy Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called spinal muscular atrophy (SMA). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor. (http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm) March 3, 2011 March 3, 2011 Progressive Myelopathic Muscular Atrophy Type IV Spinal Muscular Atrophy 141143 Adult onset spinal muscular atrophy due to autosomal dominant mutation in the vesicle-associated membrane protein-associated protein B gene (VAPB, {605704.0001} (adapted from OMIM) Finkey late-adult type SMA March 3, 2011 March 3, 2011 late-onset Finkel-type spinal muscular atrophy