obo-all/NIF_Dysfunction/NIF_Dysfunction.obo file obo-all/NIF_Dysfunction/NIF_Dysfunction.obo NIF_Dysfunction.obo 6f2168de4b2e50792dcc6c011161c47c 1269316844 1269316888 is_a is_a relationship inheritance relationship 1 consider consider metadata 1 replaced_by replaced_by metadata 1 is_a 1 1 1 NIF_Dysfunction:birnlex_12500 Huntingtons disease birnlex_anatomy 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. URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Chronic Progressive Hereditary Chorea (Huntington) Huntington Chronic Progressive Hereditary Chorea Huntington disease Huntington's Huntington's Chorea Huntington's disease http://www.w3.org/2004/02/skos/core#definition 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. http://www.w3.org/2004/02/skos/core#prefLabel Huntingtons disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D006816 nif_obo_annot:acronym HD nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp1060-4 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/huntington/huntington.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:nifID _8.3_2.10 nif_obo_annot:synonym Chronic Progressive Hereditary Chorea (Huntington) nif_obo_annot:synonym Huntington Chronic Progressive Hereditary Chorea nif_obo_annot:synonym Huntington disease nif_obo_annot:synonym Huntington's nif_obo_annot:synonym Huntington's Chorea nif_obo_annot:synonym Huntington's disease NIF_Dysfunction:birnlex_12501 Autistic Disorder birnlex_anatomy Autism Early Infantile Autism Infantile Autism Kanner's Syndrome http://www.w3.org/2004/02/skos/core#prefLabel Autistic Disorder nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:createdDate 2007-10-01 nif_obo_annot:definingCitation DSM-IV nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/autism/autism.htm nif_obo_annot:modifiedDate 2007-10-08 nif_obo_annot:nifID _8.3_11.7 nif_obo_annot:synonym Autism nif_obo_annot:synonym Early Infantile Autism nif_obo_annot:synonym Infantile Autism nif_obo_annot:synonym Kanner's Syndrome NIF_Dysfunction:birnlex_12502 Lewy Body Disease birnlex_anatomy 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. URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition 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. http://www.w3.org/2004/02/skos/core#prefLabel Lewy Body Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020961 nif_obo_annot:acronym LBD nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Neurology 1997;48:376-380; Neurology 1996;47:1113-1124 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_2.9 nif_obo_annot:usageNote 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) NIF_Dysfunction:birnlex_12504 Akinetic-Rigid Variant of Huntington Disease birnlex_anatomy Akinetic-Rigid Variant of Huntington's Disease Akinetic-Rigid Variant of Huntingtons Disease Huntington Disease, Akinetic-Rigid Variant http://www.w3.org/2004/02/skos/core#prefLabel Akinetic-Rigid Variant of Huntington Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D006816 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Akinetic-Rigid Variant of Huntington's Disease nif_obo_annot:synonym Akinetic-Rigid Variant of Huntingtons Disease nif_obo_annot:synonym Huntington Disease, Akinetic-Rigid Variant NIF_Dysfunction:birnlex_12505 Juvenile-Onset Huntington Disease birnlex_anatomy Juvenile Huntington Disease Juvenile Onset Huntington's Disease Juvenile-Onset Huntington's Disease Juvenile-Onset Huntingtons Disease http://www.w3.org/2004/02/skos/core#prefLabel Juvenile-Onset Huntington Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D006816 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Juvenile Huntington Disease nif_obo_annot:synonym Juvenile Onset Huntington's Disease nif_obo_annot:synonym Juvenile-Onset Huntington's Disease nif_obo_annot:synonym Juvenile-Onset Huntingtons Disease NIF_Dysfunction:birnlex_12506 Late-Onset Huntington Disease birnlex_anatomy Late Onset Huntington Disease Late Onset Huntingtons Disease Late-Onset Huntington's Disease Late-Onset Huntingtons Disease http://www.w3.org/2004/02/skos/core#prefLabel Late-Onset Huntington Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D006816 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Late Onset Huntington Disease nif_obo_annot:synonym Late Onset Huntingtons Disease nif_obo_annot:synonym Late-Onset Huntington's Disease nif_obo_annot:synonym Late-Onset Huntingtons Disease NIF_Dysfunction:birnlex_12507 Demyelinating disease birnlex_anatomy Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Demyelinating disorder http://www.w3.org/2004/02/skos/core#definition Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system. http://www.w3.org/2004/02/skos/core#prefLabel Demyelinating disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D003711 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:nifID _8.3_3 nif_obo_annot:synonym Demyelinating disorder NIF_Dysfunction:birnlex_12508 Demyelinating Autoimmune Disease birnlex_anatomy 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). Autoimmune Demyelinating Diseases, Central Nervous System CNS Autoimmune Demyelinating Disorders CNS Demyelinating Autoimmune Diseases http://www.w3.org/2004/02/skos/core#definition Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Demyelinating Autoimmune Disease http://www.w3.org/2004/02/skos/core#scopeNote 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). nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020278 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Autoimmune Demyelinating Diseases, Central Nervous System nif_obo_annot:synonym CNS Autoimmune Demyelinating Disorders nif_obo_annot:synonym CNS Demyelinating Autoimmune Diseases NIF_Dysfunction:birnlex_12509 Diffuse Cerebral Sclerosis of Schilder birnlex_anatomy 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). Alpers Disease Alpers Syndrome Alpers' Disease Balo's Concentric Sclerosis Cerebral Sclerosis, Diffuse Encephalitis Periaxialis Encephalitis Periaxialis Concentrica Encephalitis Periaxialis Diffusa Myelinoclastic Diffuse Sclerosis Poliodystrophia Cerebri Schilder Disease Schilder's Disease Schilders Disease http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Diffuse Cerebral Sclerosis of Schilder nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D002549 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/schilders/schilders.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Alpers Disease nif_obo_annot:synonym Alpers Syndrome nif_obo_annot:synonym Alpers' Disease nif_obo_annot:synonym Balo's Concentric Sclerosis nif_obo_annot:synonym Cerebral Sclerosis, Diffuse nif_obo_annot:synonym Encephalitis Periaxialis nif_obo_annot:synonym Encephalitis Periaxialis Concentrica nif_obo_annot:synonym Encephalitis Periaxialis Diffusa nif_obo_annot:synonym Myelinoclastic Diffuse Sclerosis nif_obo_annot:synonym Poliodystrophia Cerebri nif_obo_annot:synonym Schilder Disease nif_obo_annot:synonym Schilder's Disease nif_obo_annot:synonym Schilders Disease NIF_Dysfunction:birnlex_12510 Acute Disseminated Encephalomyelitis birnlex_anatomy 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). Postinfectious Encephalomyelitis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Acute Disseminated Encephalomyelitis http://www.w3.org/2004/02/skos/core#scopeNote 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). nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D004673 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p921 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/encephalomyelitis/acute_encephalomyelitis.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Postinfectious Encephalomyelitis NIF_Dysfunction:birnlex_12511 Post-Vaccinal Encephalomyelitis birnlex_anatomy Form of Acute Disseminated Encephalomyelitis induced by a vacine-related infection. Post-Vaccinal Encephalitis Postvaccinal Encephalitis Vaccination Encephalitis http://www.w3.org/2004/02/skos/core#definition Form of Acute Disseminated Encephalomyelitis induced by a vacine-related infection. http://www.w3.org/2004/02/skos/core#prefLabel Post-Vaccinal Encephalomyelitis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D004673 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Post-Vaccinal Encephalitis nif_obo_annot:synonym Postvaccinal Encephalitis nif_obo_annot:synonym Vaccination Encephalitis NIF_Dysfunction:birnlex_12512 Postexanthem Encephalomyelitis birnlex_anatomy 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]). http://www.w3.org/2004/02/skos/core#definition 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]). http://www.w3.org/2004/02/skos/core#prefLabel Postexanthem Encephalomyelitis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D004673 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12513 Acute Hemorrhagic Leukoencephalitis birnlex_anatomy 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 Necrotizing Encephalitis Acute Necrotizing Hemorrhagic Encephalomyelitis Hemorrhagic Necrotizing Encephalomyelitis Hurst's Disease Leukoencephalitis Acuta Hemorrhagica Subacute Hemorrhagic Leukoencephalitis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Acute Hemorrhagic Leukoencephalitis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D004684 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp924-5 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Acute Necrotizing Encephalitis nif_obo_annot:synonym Acute Necrotizing Hemorrhagic Encephalomyelitis nif_obo_annot:synonym Hemorrhagic Necrotizing Encephalomyelitis nif_obo_annot:synonym Hurst's Disease nif_obo_annot:synonym Leukoencephalitis Acuta Hemorrhagica nif_obo_annot:synonym Subacute Hemorrhagic Leukoencephalitis NIF_Dysfunction:birnlex_12514 Multiple Sclerosis birnlex_anatomy An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur (MeSH). Acute Fulminating Multiple Sclerosis Disseminated Sclerosis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Multiple Sclerosis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009103 nif_obo_annot:acronym MS nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p903 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_3.1 nif_obo_annot:synonym Acute Fulminating Multiple Sclerosis nif_obo_annot:synonym Disseminated Sclerosis NIF_Dysfunction:birnlex_12515 Chronic Progressive Multiple Sclerosis birnlex_anatomy 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). Progressive Relapsing Multiple Sclerosis Remittent Progressive Multiple Sclerosis http://www.w3.org/2004/02/skos/core#definition A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Chronic Progressive Multiple Sclerosis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020528 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Progressive Relapsing Multiple Sclerosis nif_obo_annot:synonym Remittent Progressive Multiple Sclerosis NIF_Dysfunction:birnlex_12516 Primary Progressive Multiple Sclerosis birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Primary Progressive Multiple Sclerosis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020528 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12517 Secondary Progressive Multiple Sclerosis birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Secondary Progressive Multiple Sclerosis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020528 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12518 Relapsing-Remitting Multiple Sclerosis birnlex_anatomy 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). Acute Relapsing Multiple Sclerosis Remitting-Relapsing Multiple Sclerosis http://www.w3.org/2004/02/skos/core#definition 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://www.w3.org/2004/02/skos/core#prefLabel Relapsing-Remitting Multiple Sclerosis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020529 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp903-914 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Acute Relapsing Multiple Sclerosis nif_obo_annot:synonym Remitting-Relapsing Multiple Sclerosis NIF_Dysfunction:birnlex_12519 Neuromyelitis Optica birnlex_anatomy 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). Devic Disease Devic Syndrome Devic's Disease Devic's Syndrome Devics Disease Devics Syndrome http://www.w3.org/2004/02/skos/core#definition A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Neuromyelitis Optica nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009471 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Devic Disease nif_obo_annot:synonym Devic Syndrome nif_obo_annot:synonym Devic's Disease nif_obo_annot:synonym Devic's Syndrome nif_obo_annot:synonym Devics Disease nif_obo_annot:synonym Devics Syndrome NIF_Dysfunction:birnlex_12520 Transverse Myelitis birnlex_anatomy 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). Acute Transverse Myelitis Demyelinative Myelitis Necrotizing Myelitis Subacute Transverse Myelitis Transverse Myelopathy Syndrome http://www.w3.org/2004/02/skos/core#definition Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Transverse Myelitis http://www.w3.org/2004/02/skos/core#scopeNote 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). nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009188 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp1242-6 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Acute Transverse Myelitis nif_obo_annot:synonym Demyelinative Myelitis nif_obo_annot:synonym Necrotizing Myelitis nif_obo_annot:synonym Subacute Transverse Myelitis nif_obo_annot:synonym Transverse Myelopathy Syndrome NIF_Dysfunction:birnlex_12521 Postinfectious Myelitis birnlex_anatomy A form of Transverse Myelitis induced by an infection.(MeSH). http://www.w3.org/2004/02/skos/core#definition A form of Transverse Myelitis induced by an infection.(MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Postinfectious Myelitis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009188 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12522 Postvaccinal Myelitis birnlex_anatomy A form of Transverse Myelitis induced by a vaccine-induced infection.(MeSH). http://www.w3.org/2004/02/skos/core#definition A form of Transverse Myelitis induced by a vaccine-induced infection.(MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Postvaccinal Myelitis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009188 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12523 Paraneoplastic Myelitis birnlex_anatomy A form of Transverse Myelitis associated with a neoplastic condition.(MeSH). http://www.w3.org/2004/02/skos/core#definition A form of Transverse Myelitis associated with a neoplastic condition.(MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Paraneoplastic Myelitis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009188 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12524 Neurodevelopmental disease birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#editorialNote 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://www.w3.org/2004/02/skos/core#prefLabel Neurodevelopmental disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:nifID _8.3_4 NIF_Dysfunction:birnlex_12525 Nervous system neoplastic disease birnlex_anatomy http://www.w3.org/2004/02/skos/core#editorialNote 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). http://www.w3.org/2004/02/skos/core#editorialNote 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). http://www.w3.org/2004/02/skos/core#prefLabel Nervous system neoplastic disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009423 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:nifID _8.3_10 NIF_Dysfunction:birnlex_12526 Hereditary Central Nervous System Demyelinating Diseases birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Hereditary Central Nervous System Demyelinating Diseases nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020279 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12527 Adrenoleukodystrophy birnlex_anatomy 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). Adrenomyeloneuropathy Schilder-Addison Complex X-Linked Adrenoleukodystrophy http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Adrenoleukodystrophy http://www.w3.org/2004/02/skos/core#scopeNote Do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS (MeSH) nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D000326 nif_obo_annot:acronym ALD nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Adrenomyeloneuropathy nif_obo_annot:synonym Schilder-Addison Complex nif_obo_annot:synonym X-Linked Adrenoleukodystrophy NIF_Dysfunction:birnlex_12528 Alexander Disease birnlex_anatomy 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's Disease Alexanders Disease http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Alexander Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D038261 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Alexander's Disease nif_obo_annot:synonym Alexanders Disease NIF_Dysfunction:birnlex_12529 Canavan Disease birnlex_anatomy 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). Aspartoacylase Deficiency Disease Canavan's Disease Canavan-van Bogaert-Bertrand Disease Canavans Disease Familial Form of Canavan Disease Leukodystrophy, Spongiform Spongy Disease of Central Nervous System Spongy Disease of White Matter http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Canavan Disease http://www.w3.org/2004/02/skos/core#scopeNote Do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS (MeSH). nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D017825 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/canavan/canavan.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Aspartoacylase Deficiency Disease nif_obo_annot:synonym Canavan's Disease nif_obo_annot:synonym Canavan-van Bogaert-Bertrand Disease nif_obo_annot:synonym Canavans Disease nif_obo_annot:synonym Familial Form of Canavan Disease nif_obo_annot:synonym Leukodystrophy, Spongiform nif_obo_annot:synonym Spongy Disease of Central Nervous System nif_obo_annot:synonym Spongy Disease of White Matter NIF_Dysfunction:birnlex_12530 Type I Canavan Disease birnlex_anatomy Neonatal Canavan Disease Type I Canavan's Disease Type I Canavans Disease http://www.w3.org/2004/02/skos/core#prefLabel Type I Canavan Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D017825 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Neonatal Canavan Disease nif_obo_annot:synonym Type I Canavan's Disease nif_obo_annot:synonym Type I Canavans Disease NIF_Dysfunction:birnlex_12531 Type II Canavan Disease birnlex_anatomy Infantile Canavan Disease Spongy Degeneration of Infancy Type II Canavan's Disease Type II Canavans Disease http://www.w3.org/2004/02/skos/core#prefLabel Type II Canavan Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D017825 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Infantile Canavan Disease nif_obo_annot:synonym Spongy Degeneration of Infancy nif_obo_annot:synonym Type II Canavan's Disease nif_obo_annot:synonym Type II Canavans Disease NIF_Dysfunction:birnlex_12532 Type III Canavan Disease birnlex_anatomy Juvenile Canavan Disease Type III Canavan's Disease Type III Canavans Disease http://www.w3.org/2004/02/skos/core#prefLabel Type III Canavan Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D017825 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Juvenile Canavan Disease nif_obo_annot:synonym Type III Canavan's Disease nif_obo_annot:synonym Type III Canavans Disease NIF_Dysfunction:birnlex_12533 Globoid Cell Leukodystrophy birnlex_anatomy 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). Diffuse Globoid Body Sclerosis Galactosylceramidase Deficiency Disease Galactosylceramide-beta-Galactosidase Deficiency Disease Globoid Leukodystrophy Krabbe Disease Krabbe's Disease Krabbe's Leukodystrophy Krabbes Disease http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Globoid Cell Leukodystrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007965 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Diffuse Globoid Body Sclerosis nif_obo_annot:synonym Galactosylceramidase Deficiency Disease nif_obo_annot:synonym Galactosylceramide-beta-Galactosidase Deficiency Disease nif_obo_annot:synonym Globoid Leukodystrophy nif_obo_annot:synonym Krabbe Disease nif_obo_annot:synonym Krabbe's Disease nif_obo_annot:synonym Krabbe's Leukodystrophy nif_obo_annot:synonym Krabbes Disease NIF_Dysfunction:birnlex_12534 Classic Globoid Cell Leukodystrophy birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Classic Globoid Cell Leukodystrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007965 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12535 Infantile Globoid Cell Leukodystrophy birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Infantile Globoid Cell Leukodystrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007965 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12536 Early-Onset Globoid Cell Leukodystrophy birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Early-Onset Globoid Cell Leukodystrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007965 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12537 Late-Onset Globoid Cell Leukodystrophy birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Late-Onset Globoid Cell Leukodystrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007965 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12538 Niemann-Pick Disease birnlex_anatomy 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). Niemann Pick Disease Niemann Pick's Disease Niemann-Pick Diseases Niemann-Pick's Disease http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Niemann-Pick Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009542 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/niemann/niemann.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Niemann Pick Disease nif_obo_annot:synonym Niemann Pick's Disease nif_obo_annot:synonym Niemann-Pick Diseases nif_obo_annot:synonym Niemann-Pick's Disease NIF_Dysfunction:birnlex_12539 Niemann-Pick Disease, Type A birnlex_anatomy 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). Classical Niemann-Pick Disease 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's Disease, Type A Sphingomyelinase Deficiency Disease http://www.w3.org/2004/02/skos/core#definition 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://www.w3.org/2004/02/skos/core#prefLabel Niemann-Pick Disease, Type A nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D052536 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Classical Niemann-Pick Disease nif_obo_annot:synonym Niemann Pick's Disease, Type A nif_obo_annot:synonym Niemann-Pick Disease, Acute Neuronopathic Form nif_obo_annot:synonym Niemann-Pick Disease, Acute Neurovisceral Form nif_obo_annot:synonym Niemann-Pick Disease, Neuronopathic Type nif_obo_annot:synonym Niemann-Pick's Disease, Type A nif_obo_annot:synonym Sphingomyelinase Deficiency Disease NIF_Dysfunction:birnlex_12540 Niemann-Pick Disease, Type B birnlex_anatomy 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). Niemann Pick's Disease, Type B Niemann-Pick Disease, Adult Non-Neuronopathic Niemann-Pick Disease, Non-Neuronopathic Type Niemann-Pick Disease, Type E Niemann-Pick Disease, Visceral Niemann-Pick's Disease, Type B http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Niemann-Pick Disease, Type B nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D052537 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Niemann Pick's Disease, Type B nif_obo_annot:synonym Niemann-Pick Disease, Adult Non-Neuronopathic nif_obo_annot:synonym Niemann-Pick Disease, Non-Neuronopathic Type nif_obo_annot:synonym Niemann-Pick Disease, Type E nif_obo_annot:synonym Niemann-Pick Disease, Visceral nif_obo_annot:synonym Niemann-Pick's Disease, Type B NIF_Dysfunction:birnlex_12541 Niemann-Pick Disease, Type C birnlex_anatomy 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). 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 D Niemann-Pick's Disease, Type C http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Niemann-Pick Disease, Type C nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D052556 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia nif_obo_annot:synonym Niemann Pick Disease, Type C nif_obo_annot:synonym Niemann Pick's Disease, Type C nif_obo_annot:synonym Niemann-Pick Disease with Cholesterol Esterification Block nif_obo_annot:synonym Niemann-Pick Disease without Sphingomyelinase Deficiency nif_obo_annot:synonym Niemann-Pick Disease, Chronic Neuronopathic Form nif_obo_annot:synonym Niemann-Pick Disease, Nova Scotian nif_obo_annot:synonym Niemann-Pick Disease, Type D nif_obo_annot:synonym Niemann-Pick's Disease, Type C NIF_Dysfunction:birnlex_12542 Metachromatic Leukodystrophy birnlex_anatomy 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 Greenfield's Disease Sulfatide Lipidosis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Metachromatic Leukodystrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007966 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Arylsulfatase A Deficiency Disease nif_obo_annot:synonym Cerebroside Sulphatase Deficiency Disease nif_obo_annot:synonym Greenfield's Disease nif_obo_annot:synonym Sulfatide Lipidosis NIF_Dysfunction:birnlex_12543 Metachromatic Leukodystrophy, Infant-Type birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Metachromatic Leukodystrophy, Infant-Type nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007966 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12544 Metachromatic Leukodystrophy, Juvenile-Type birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Metachromatic Leukodystrophy, Juvenile-Type nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007966 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12545 Metachromatic Leukodystrophy, Adult-Type birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Metachromatic Leukodystrophy, Adult-Type nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007966 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12546 Pelizaeus-Merzbacher Disease birnlex_anatomy 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). Cockayne-Pelizaeus-Merzbacher Disease Pelizaeus Merzbacher's Disease Pelizaeus-Merzbacher's Disease http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Pelizaeus-Merzbacher Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020371 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Cockayne-Pelizaeus-Merzbacher Disease nif_obo_annot:synonym Pelizaeus Merzbacher's Disease nif_obo_annot:synonym Pelizaeus-Merzbacher's Disease NIF_Dysfunction:birnlex_12547 Classic Pelizaeus-Merzbacher Disease birnlex_anatomy Classic Pelizaeus Merzbacher's Disease Classic Pelizaeus-Merzbacher's Disease http://www.w3.org/2004/02/skos/core#prefLabel Classic Pelizaeus-Merzbacher Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020371 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Classic Pelizaeus Merzbacher's Disease nif_obo_annot:synonym Classic Pelizaeus-Merzbacher's Disease NIF_Dysfunction:birnlex_12548 Transitional Pelizaeus-Merzbacher Disease birnlex_anatomy Transitional Pelizaeus Merzbacher's Disease Transitional Pelizaeus-Merzbacher's Disease http://www.w3.org/2004/02/skos/core#prefLabel Transitional Pelizaeus-Merzbacher Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020371 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Transitional Pelizaeus Merzbacher's Disease nif_obo_annot:synonym Transitional Pelizaeus-Merzbacher's Disease NIF_Dysfunction:birnlex_12550 Adult Pelizaeus-Merzbacher Disease birnlex_anatomy Adult Pelizaeus-Merzbacher's Disease Adult Pelizaeus-Merzbachers Disease http://www.w3.org/2004/02/skos/core#prefLabel Adult Pelizaeus-Merzbacher Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020371 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Adult Pelizaeus-Merzbacher's Disease nif_obo_annot:synonym Adult Pelizaeus-Merzbachers Disease NIF_Dysfunction:birnlex_12551 Progressive Multifocal Leukoencephalopathy birnlex_anatomy 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). JC Polyomavirus Encephalopathy PML http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Progressive Multifocal Leukoencephalopathy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D007968 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/pml/pml.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym JC Polyomavirus Encephalopathy nif_obo_annot:synonym PML NIF_Dysfunction:birnlex_12552 Central Pontine Myelinolysis birnlex_anatomy 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). Extrapontine Myelinoclasis Extrapontine Myelinolysis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Central Pontine Myelinolysis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D017590 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp1125-6 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/central_pontine_myelinolysis.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Extrapontine Myelinoclasis nif_obo_annot:synonym Extrapontine Myelinolysis NIF_Dysfunction:birnlex_12553 Polyradiculoneuropathy birnlex_anatomy 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). Peripheral Autoimmune Demyelinating Disease Polyneuropathy Polyradiculoneuritis http://www.w3.org/2004/02/skos/core#definition Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy ( GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Polyradiculoneuropathy http://www.w3.org/2004/02/skos/core#scopeNote Do not confuse with POLYRADICULOPATHY (disease of multiple nerve roots) nor with RADICULOPATHY (disease of a single nerve root) nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D011129 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_3.2 nif_obo_annot:synonym Peripheral Autoimmune Demyelinating Disease nif_obo_annot:synonym Polyneuropathy nif_obo_annot:synonym Polyradiculoneuritis NIF_Dysfunction:birnlex_12554 Guillain-Barre Syndrome birnlex_anatomy 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). Acute Autoimmune Neuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Inflammatory Polyneuropathy Acute Inflammatory Polyradiculoneuropathy Guillaine-Barre Syndrome Landry-Guillain-Barre Syndrome http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Guillain-Barre Syndrome http://www.w3.org/2004/02/skos/core#scopeNote Do not confuse X ref POLYRADICULONEUROPATHY, ACUTE INFLAMMATORY with POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY see POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020275 nif_obo_annot:acronym AIDP nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp1312-1314 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/gbs/gbs.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Acute Autoimmune Neuropathy nif_obo_annot:synonym Acute Inflammatory Demyelinating Polyradiculoneuropathy nif_obo_annot:synonym Acute Inflammatory Polyneuropathy nif_obo_annot:synonym Acute Inflammatory Polyradiculoneuropathy nif_obo_annot:synonym Guillaine-Barre Syndrome nif_obo_annot:synonym Landry-Guillain-Barre Syndrome NIF_Dysfunction:birnlex_12555 Miller Fisher Syndrome birnlex_anatomy 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). Fisher Syndrome Guillain Barre Syndrome, Miller Fisher Variant Ophthalmoplegia, Ataxia and Areflexia Syndrome http://www.w3.org/2004/02/skos/core#definition A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Miller Fisher Syndrome http://www.w3.org/2004/02/skos/core#scopeNote 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. nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D019846 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Fisher Syndrome nif_obo_annot:synonym Guillain Barre Syndrome, Miller Fisher Variant nif_obo_annot:synonym Ophthalmoplegia, Ataxia and Areflexia Syndrome NIF_Dysfunction:birnlex_12556 Hereditary Sensory and Autonomic Neuropathies birnlex_anatomy 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 Hereditary Sensory Radicular Neuropathy http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Hereditary Sensory and Autonomic Neuropathies http://www.w3.org/2004/02/skos/core#scopeNote Do not confuse with HEREDITARY MOTOR AND SENSORY NEUROPATHIES; for X refs to HSAN types: HSAN TYPE III is see DYSAUTONOMIA, FAMILIAL. nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009477 nif_obo_annot:acronym HSAN nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Joynt, Clinical Neurology, 1995, Ch51, pp142-4 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Congenital Insensitivity to Pain with Anhidrosis nif_obo_annot:synonym Hereditary Sensory Radicular Neuropathy NIF_Dysfunction:birnlex_12557 Hereditary Sensory Autonomic Neuropathy, Type 1 birnlex_anatomy HSAN Type I HSN Type I http://www.w3.org/2004/02/skos/core#prefLabel Hereditary Sensory Autonomic Neuropathy, Type 1 nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009477 nif_obo_annot:abbrev HSAN Type I nif_obo_annot:abbrev HSN Type I nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12558 Hereditary Sensory Autonomic Neuropathy, Type 2 birnlex_anatomy HSAN Type II HSN Type II http://www.w3.org/2004/02/skos/core#prefLabel Hereditary Sensory Autonomic Neuropathy, Type 2 nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009477 nif_obo_annot:abbrev HSAN Type II nif_obo_annot:abbrev HSN Type II nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12559 Hereditary Sensory Autonomic Neuropathy, Type 4 birnlex_anatomy HSAN Type IV HSN Type IV http://www.w3.org/2004/02/skos/core#prefLabel Hereditary Sensory Autonomic Neuropathy, Type 4 nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009477 nif_obo_annot:abbrev HSAN Type IV nif_obo_annot:abbrev HSN Type IV nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12560 Hereditary Sensory Autonomic Neuropathy, Type 5 birnlex_anatomy HSAN Type V HSN Type V http://www.w3.org/2004/02/skos/core#prefLabel Hereditary Sensory Autonomic Neuropathy, Type 5 nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009477 nif_obo_annot:abbrev HSAN Type V nif_obo_annot:abbrev HSN Type V nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12561 Familial Dysautonomia birnlex_anatomy 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). Dominant Hereditary Sensory Neuropathy, Type 3 HSAN Type III Hereditary-Sensory and Autonomic Neuropathy Type III Neuropathy, Hereditary and Autonomic, Type III Riley-Day Syndrome http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Familial Dysautonomia http://www.w3.org/2004/02/skos/core#scopeNote Do not confuse with DYSAUTONOMIA see AUTONOMIC NERVOUS SYSTEM DISEASES. nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D004402 nif_obo_annot:abbrev HSAN Type III nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Dominant Hereditary Sensory Neuropathy, Type 3 nif_obo_annot:synonym Hereditary-Sensory and Autonomic Neuropathy Type III nif_obo_annot:synonym Neuropathy, Hereditary and Autonomic, Type III nif_obo_annot:synonym Riley-Day Syndrome NIF_Dysfunction:birnlex_12562 Atypical Pelizaeus-Merzbacher Disease birnlex_anatomy Atypical Pelizaeus Merzbacher's Disease Atypical Pelizaeus-Merzbacher's Disease http://www.w3.org/2004/02/skos/core#prefLabel Atypical Pelizaeus-Merzbacher Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020371 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Atypical Pelizaeus Merzbacher's Disease nif_obo_annot:synonym Atypical Pelizaeus-Merzbacher's Disease NIF_Dysfunction:birnlex_12563 Chronic Inflammatory Demyelinating Polyradiculoneuropathy birnlex_anatomy 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). Chronic Inflammatory Demyelinating Polyneuropathy Chronic Inflammatory Polyradiculoneuropathy Chronic Inflammatory Polyradiculopathy http://www.w3.org/2004/02/skos/core#definition A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Chronic Inflammatory Demyelinating Polyradiculoneuropathy http://www.w3.org/2004/02/skos/core#scopeNote Do do not confuse X ref CHRONIC INFLAMMATORY POLYRADICULONEUROPATHY with POLYRADICULONEUROPATHY, ACUTE INFLAMMATORY see GUILLAIN-BARRE SYNDROME. nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020277 nif_obo_annot:acronym CIDP nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1337 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/cidp/cidp.htm nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Chronic Inflammatory Demyelinating Polyneuropathy nif_obo_annot:synonym Chronic Inflammatory Polyradiculoneuropathy nif_obo_annot:synonym Chronic Inflammatory Polyradiculopathy NIF_Dysfunction:birnlex_12564 Subacute Combined Degeneration birnlex_anatomy 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). Subacute Combined Neuropathy Degeneration http://www.w3.org/2004/02/skos/core#definition A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Subacute Combined Degeneration nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D052879 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Subacute Combined Neuropathy Degeneration NIF_Dysfunction:birnlex_12565 Motor Neuron Disease birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Motor System Disease http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Motor Neuron Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D016472 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1089 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/motor_neuron_diseases/motor_neuron_diseases.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:nifID _8.3_2.5 nif_obo_annot:synonym Motor System Disease nif_obo_annot:usageNote 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) NIF_Dysfunction:birnlex_12566 Amyotrophic Lateral Sclerosis birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Gehrig's Disease Gehrigs Disease Lou Gehrig Disease Lou Gehrig's Disease Lou Gehrigs Disease http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Amyotrophic Lateral Sclerosis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D000690 nif_obo_annot:acronym ALS nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp1089-94 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/amyotrophiclateralsclerosis.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:nifID _8.3_2.5.1 nif_obo_annot:synonym Gehrig's Disease nif_obo_annot:synonym Gehrigs Disease nif_obo_annot:synonym Lou Gehrig Disease nif_obo_annot:synonym Lou Gehrig's Disease nif_obo_annot:synonym Lou Gehrigs Disease NIF_Dysfunction:birnlex_12567 Progressive Bulbar Palsy birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Bulbar Palsy Bulbar paralysis Fazio-Londe Syndrome Fazio-Londe's Syndrome http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Progressive Bulbar Palsy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D010244 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:synonym nif_obo_annot:synonym Bulbar Palsy nif_obo_annot:synonym Bulbar paralysis nif_obo_annot:synonym Fazio-Londe Syndrome nif_obo_annot:synonym Fazio-Londe's Syndrome NIF_Dysfunction:birnlex_12568 Spinal Muscular Atrophy birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Bulbospinal Neuronopathy Kennedy Syndrome Kennedy's Syndrome Progressive Myelopathic Muscular Atrophy http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Spinal Muscular Atrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_annot:putativeClassExtension Adult Spinal Muscular Atrophy nif_annot:putativeClassExtension Distal Spinal Muscular Atrophy nif_annot:putativeClassExtension Oculopharyngeal Spinal Muscular Atrophy nif_annot:putativeClassExtension Progressive Proximal Myelopathic Muscular Atrophy nif_annot:putativeClassExtension Scapuloperoneal Form of Spinal Muscular Atrophy nif_obo_annot:MeshUid D009134 nif_obo_annot:acronym SMA nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1089 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/sma/sma.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:nifID _8.3_2.5.2 nif_obo_annot:synonym Bulbospinal Neuronopathy nif_obo_annot:synonym Kennedy Syndrome nif_obo_annot:synonym Kennedy's Syndrome nif_obo_annot:synonym Progressive Myelopathic Muscular Atrophy NIF_Dysfunction:birnlex_12569 Spinal Muscular Atrophies of Childhood birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Bulbospinal Neuronopathy Kennedy Syndrome Kennedy's Syndrome Progressive Myelopathic Muscular Atrophy http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Spinal Muscular Atrophies of Childhood http://www.w3.org/2004/02/skos/core#scopeNote Infantile, childhood or adolescent: for other, MUSCULAR ATROPHY, SPINAL is available (MeSH). nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009134 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation J Med Genet 1996 Apr:33(4):281-3 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Bulbospinal Neuronopathy nif_obo_annot:synonym Kennedy Syndrome nif_obo_annot:synonym Kennedy's Syndrome nif_obo_annot:synonym Progressive Myelopathic Muscular Atrophy NIF_Dysfunction:birnlex_12570 Type I Spinal Muscular Atrophy birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 HMN Proximal Type I Hereditary Motor Neuropathy Proximal Type I Infantile Spinal Muscular Atrophy Werdnig-Hoffmann Disease http://www.w3.org/2004/02/skos/core#prefLabel Type I Spinal Muscular Atrophy http://www.w3.org/2004/02/skos/core#scopeNote 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 nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D014897 nif_obo_annot:abbrev HMN Proximal Type I nif_obo_annot:acronym WHD nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation J Med Genet 1996 Apr:33(4):281-3 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:synonym Hereditary Motor Neuropathy Proximal Type I nif_obo_annot:synonym Infantile Spinal Muscular Atrophy nif_obo_annot:synonym Werdnig-Hoffmann Disease nif_obo_annot:usageNote Type I is fatal in infancy (MeSH). NIF_Dysfunction:birnlex_12571 Type II Spinal Muscular Atrophy birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Late infantile spinal muscular atrophy SMA2 http://www.w3.org/2004/02/skos/core#prefLabel Type II Spinal Muscular Atrophy http://www.w3.org/2004/02/skos/core#scopeNote Type II has a late infantile onset and is associated with survival into the second or third decade (MeSH). nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D014897 nif_obo_annot:abbrev SMA2 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation J Med Genet 1996 Apr:33(4):281-3 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:synonym Late infantile spinal muscular atrophy NIF_Dysfunction:birnlex_12572 Type III Spinal Muscular Atrophy birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Juvenile Spinal Muscular Atrophy Kugelberg-Welander Disease SMA type III SMA3 http://www.w3.org/2004/02/skos/core#prefLabel Type III Spinal Muscular Atrophy http://www.w3.org/2004/02/skos/core#scopeNote Type III has its onset in childhood and is slowly progressive (MeSH). nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D014897 nif_obo_annot:abbrev SMA type III nif_obo_annot:abbrev SMA3 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation J Med Genet 1996 Apr:33(4):281-3 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:synonym Juvenile Spinal Muscular Atrophy nif_obo_annot:synonym Kugelberg-Welander Disease NIF_Dysfunction:birnlex_12573 Multiple System Atrophy birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Multiple System Atrophy Syndrome Multisystem Atrophy Multisystemic Atrophy http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Multiple System Atrophy http://www.w3.org/2004/02/skos/core#scopeNote A specific neurodegenerative syndrome complex; not for atrophy in other systems (BB: 2007-10-05) nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D019578 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation 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 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/msa/msa.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_2.11 nif_obo_annot:synonym Multiple System Atrophy Syndrome nif_obo_annot:synonym Multisystem Atrophy nif_obo_annot:synonym Multisystemic Atrophy NIF_Dysfunction:birnlex_12574 Olivopontocerebellar Atrophy birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Dejerine-Thomas Syndrome Olivo-Ponto-Cerebellar Atrophy Olivo-Ponto-Cerebellar Degeneration Olivopontocerebellar Atrophies Olivopontocerebellar Atrophy Olivopontocerebellar Degeneration Pontoolivocerebellar Atrophy Presenile Ataxia http://www.w3.org/2004/02/skos/core#definition A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Olivopontocerebellar Atrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009849 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1085 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/opca/opca.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Dejerine-Thomas Syndrome nif_obo_annot:synonym Olivo-Ponto-Cerebellar Atrophy nif_obo_annot:synonym Olivo-Ponto-Cerebellar Degeneration nif_obo_annot:synonym Olivopontocerebellar Atrophies nif_obo_annot:synonym Olivopontocerebellar Atrophy nif_obo_annot:synonym Olivopontocerebellar Degeneration nif_obo_annot:synonym Pontoolivocerebellar Atrophy nif_obo_annot:synonym Presenile Ataxia nif_obo_annot:usageNote The MeSH term has the following implied subtypes: Nonfamilial Olivopontocerebellar Atrophy; Idiopathic Olivopontocerebellar Atrophy NIF_Dysfunction:birnlex_12575 Familial Olivopontocerebellar Atrophy birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Inherited Olivopontocerebellar Atrophy http://www.w3.org/2004/02/skos/core#prefLabel Familial Olivopontocerebellar Atrophy http://www.w3.org/2004/02/skos/core#scopeNote The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. (BB: 2007-10-05) nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009849 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1085 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Inherited Olivopontocerebellar Atrophy NIF_Dysfunction:birnlex_12576 Shy-Drager Syndrome birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Dysautonomia-Orthostatic Hypotension Syndrome Dysautonomic Orthostatic Hypotension Idiopathic Orthostatic Hypotension, Shy-Drager Type Multiple System Atrophy with Orthostatic Hypotension Progressive Autonomic Failure http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Shy-Drager Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D012791 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p536 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/striatonigral_degeneration/striatonigral_degeneration.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Dysautonomia-Orthostatic Hypotension Syndrome nif_obo_annot:synonym Dysautonomic Orthostatic Hypotension nif_obo_annot:synonym Idiopathic Orthostatic Hypotension, Shy-Drager Type nif_obo_annot:synonym Multiple System Atrophy with Orthostatic Hypotension nif_obo_annot:synonym Progressive Autonomic Failure NIF_Dysfunction:birnlex_12577 Striatonigral Degeneration birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Striatonigral Atrophy http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Striatonigral Degeneration nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020955 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1075-6 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/msa_orthostatic_hypotension/msa_orthostatic_hypotension.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Striatonigral Atrophy NIF_Dysfunction:birnlex_12578 Neuromuscular Disease birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neuromuscular Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009468 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:nifID _8.3_9 NIF_Dysfunction:birnlex_12579 Autonomic Nervous System Disease birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 ANS Diseases Autonomic Diseases Autonomic Nervous System Disorders Autonomic Peripheral Nervous System Diseases Dysautonomia http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#editorialNote MeSH includes synonyms for two implied sub-types: Pure Autonomic Failure; Segmental Autonomic Dysfunction http://www.w3.org/2004/02/skos/core#prefLabel Autonomic Nervous System Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D001342 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-11-18 nif_obo_annot:synonym ANS Diseases nif_obo_annot:synonym Autonomic Diseases nif_obo_annot:synonym Autonomic Nervous System Disorders nif_obo_annot:synonym Autonomic Peripheral Nervous System Diseases nif_obo_annot:synonym Dysautonomia NIF_Dysfunction:birnlex_12580 Parasympathetic Nervous System Disease birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#prefLabel Parasympathetic Nervous System Disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D001342 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12581 Holmes-Adie Syndrome birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Adie Syndrome http://www.w3.org/2004/02/skos/core#prefLabel Holmes-Adie Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D000270 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Adie Syndrome NIF_Dysfunction:birnlex_12582 Autonomic Dysreflexia birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Autonomic Hyperreflexia Spinal Autonomic Dysreflexia http://www.w3.org/2004/02/skos/core#definition A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a CEREBROVASCULAR ACCIDENT (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Autonomic Dysreflexia nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020211 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Autonomic Hyperreflexia nif_obo_annot:synonym Spinal Autonomic Dysreflexia NIF_Dysfunction:birnlex_12583 Complex Regional Pain Syndrome birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Autonomic Hyperreflexia http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Complex Regional Pain Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020918 nif_obo_annot:acronym CRPS nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Pain 1995 Oct;63(1):127-33 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Autonomic Hyperreflexia NIF_Dysfunction:birnlex_12584 Causalgia birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 CRPS Type II Causalgia Syndrome Complex Regional Pain Syndrome Type II Deafferentation Pain http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Causalgia nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D002422 nif_obo_annot:abbrev CRPS Type II nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1359 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Causalgia Syndrome nif_obo_annot:synonym Complex Regional Pain Syndrome Type II nif_obo_annot:synonym Deafferentation Pain NIF_Dysfunction:birnlex_12585 Reflex Sympathetic Dystrophy birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Algodystrophic Syndrome Algodystrophy CRPS Type I Cervical Sympathetic Dystrophy Complex Regional Pain Syndrome Type I Reflex Sympathetic Dystrophy Syndrome Shoulder-Hand Syndrome Sudek Atrophy Sympathetic Reflex Dystrophia http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Reflex Sympathetic Dystrophy nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D012019 nif_obo_annot:abbrev CRPS Type I nif_obo_annot:acronym RSD nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Algodystrophic Syndrome nif_obo_annot:synonym Algodystrophy nif_obo_annot:synonym Cervical Sympathetic Dystrophy nif_obo_annot:synonym Complex Regional Pain Syndrome Type I nif_obo_annot:synonym Reflex Sympathetic Dystrophy Syndrome nif_obo_annot:synonym Shoulder-Hand Syndrome nif_obo_annot:synonym Sudek Atrophy nif_obo_annot:synonym Sympathetic Reflex Dystrophia NIF_Dysfunction:birnlex_12586 Horner Syndrome birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Bernard Syndrome Claude Bernard-Horner Syndrome Miosis, Innervational Defect Oculosympathetic Syndrome Ptosis Sympathetic Sympathetic Ocular-Ophthalmoplegia http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Horner Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D006732 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Bernard Syndrome nif_obo_annot:synonym Claude Bernard-Horner Syndrome nif_obo_annot:synonym Miosis, Innervational Defect nif_obo_annot:synonym Oculosympathetic Syndrome nif_obo_annot:synonym Ptosis Sympathetic nif_obo_annot:synonym Sympathetic Ocular-Ophthalmoplegia NIF_Dysfunction:birnlex_12587 Frey Syndrome birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Auriculotemporal Syndrome Baillarger Syndrome Frey's Syndrome Freys Syndrome Gustatory Hyperhidrosis Salivosudoriparous Syndrome Sympathetic Ocular-Ophthalmoplegia Von Frey Syndrome Von Frey's Syndrome http://www.w3.org/2004/02/skos/core#definition An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Frey Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D013547 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Ann Neurol 1997 Dec;42(6):973-5 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Auriculotemporal Syndrome nif_obo_annot:synonym Baillarger Syndrome nif_obo_annot:synonym Frey's Syndrome nif_obo_annot:synonym Freys Syndrome nif_obo_annot:synonym Gustatory Hyperhidrosis nif_obo_annot:synonym Salivosudoriparous Syndrome nif_obo_annot:synonym Sympathetic Ocular-Ophthalmoplegia nif_obo_annot:synonym Von Frey Syndrome nif_obo_annot:synonym Von Frey's Syndrome NIF_Dysfunction:birnlex_12588 Isaacs Syndrome birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Acquired Neuromyotonia Continuous Muscle Activity Syndrome Continuous Myokymia Gamstorp-Wohlfart Syndrome Isaac Syndrome Isaac's Syndrome Isaacs-Mertens Syndrome Neuromyotonia Pseudomyotonia Pseudomyotonia Syndrome of Isaacs Quantal Squander http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Isaacs Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020386 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate April 11, 2009 nif_obo_annot:synonym Acquired Neuromyotonia nif_obo_annot:synonym Continuous Muscle Activity Syndrome nif_obo_annot:synonym Continuous Myokymia nif_obo_annot:synonym Gamstorp-Wohlfart Syndrome nif_obo_annot:synonym Isaac Syndrome nif_obo_annot:synonym Isaac's Syndrome nif_obo_annot:synonym Isaacs-Mertens Syndrome nif_obo_annot:synonym Neuromyotonia nif_obo_annot:synonym Pseudomyotonia nif_obo_annot:synonym Pseudomyotonia Syndrome of Isaacs nif_obo_annot:synonym Quantal Squander NIF_Dysfunction:birnlex_12589 Sympathetic Nervous System Diseases birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#prefLabel Sympathetic Nervous System Diseases nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D001342 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12590 Neuromuscular Junction Diseases birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Neuromuscular Junction Disorders Neuromuscular Transmission Disorders http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neuromuscular Junction Diseases nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020511 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Neuromuscular Junction Disorders nif_obo_annot:synonym Neuromuscular Transmission Disorders NIF_Dysfunction:birnlex_12591 Botulism birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Toxico-Infectious Botulism http://www.w3.org/2004/02/skos/core#definition A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others) (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Botulism nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D001906 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Toxico-Infectious Botulism NIF_Dysfunction:birnlex_12592 Lambert-Eaton Myasthenic Syndrome birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Eaton-Lambert Myasthenic Syndrome Eaton-Lambert Syndrome Lambert-Eaton Syndrome Lambert-Eaton's Syndrome Myasthenic-Myopathic Syndrome of Eaton-Lambert Myasthenic-Myopathic Syndrome of Lambert-Eaton http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Lambert-Eaton Myasthenic Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D015624 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp 1471 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_9.2 nif_obo_annot:synonym Eaton-Lambert Myasthenic Syndrome nif_obo_annot:synonym Eaton-Lambert Syndrome nif_obo_annot:synonym Lambert-Eaton Syndrome nif_obo_annot:synonym Lambert-Eaton's Syndrome nif_obo_annot:synonym Myasthenic-Myopathic Syndrome of Eaton-Lambert nif_obo_annot:synonym Myasthenic-Myopathic Syndrome of Lambert-Eaton NIF_Dysfunction:birnlex_12593 Myasthenia Gravis birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Myasthenia Gravis, Generalized http://www.w3.org/2004/02/skos/core#definition A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Myasthenia Gravis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009157 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1459 nif_obo_annot:definingCitationURI http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_9.1 nif_obo_annot:synonym Myasthenia Gravis, Generalized NIF_Dysfunction:birnlex_12594 Myasthenia Gravis, Ocular birnlex_anatomy http://www.w3.org/2004/02/skos/core#prefLabel Myasthenia Gravis, Ocular nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009157 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12595 Autoimmune Experimental Myasthenia Gravis birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Experimental Myasthenia Experimental Myasthenia Gravis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Autoimmune Experimental Myasthenia Gravis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020720 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Joynt, Clinical Neurology, 1997, Ch 54, p3 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Experimental Myasthenia nif_obo_annot:synonym Experimental Myasthenia Gravis nif_obo_annot:usageNote 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). NIF_Dysfunction:birnlex_12596 Neonatal Myasthenia Gravis birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Antenatal Myasthenia Gravis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neonatal Myasthenia Gravis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020941 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Antenatal Myasthenia Gravis nif_obo_annot:usageNote 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). NIF_Dysfunction:birnlex_12597 Congenital Myasthenic Syndrome birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Congenital Myasthenia Gravis http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Congenital Myasthenic Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020294 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Arch Neurol 1999 Feb;56(2):163-7 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Congenital Myasthenia Gravis nif_obo_annot:usageNote Do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers (MeSH). NIF_Dysfunction:birnlex_12598 Postsynaptic Congenital Myasthenic Syndrome birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Slow-Channel Congenital Myasthenic Syndrome http://www.w3.org/2004/02/skos/core#prefLabel Postsynaptic Congenital Myasthenic Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020294 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Slow-Channel Congenital Myasthenic Syndrome NIF_Dysfunction:birnlex_12599 Presynaptic Congenital Myasthenic Syndrome birnlex_anatomy . URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#prefLabel Presynaptic Congenital Myasthenic Syndrome nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020294 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12600 Primary nervous system neoplastic disease birnlex_anatomy Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves (MeSH). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Nerve Tissue Neoplasm Nervous Tissue Neoplasm http://www.w3.org/2004/02/skos/core#definition Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Primary nervous system neoplastic disease nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009380 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_10.1 nif_obo_annot:synonym Nerve Tissue Neoplasm nif_obo_annot:synonym Nervous Tissue Neoplasm NIF_Dysfunction:birnlex_12601 Meningioma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Meningioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D008579 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_10.1.2 nif_obo_annot:usageNote 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). NIF_Dysfunction:birnlex_12602 Nerve Sheath Neoplasms birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Nerve Sheath Neoplasms nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D018317 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12603 Neurilemmoma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Neurilemmosarcoma Neurilemoma Neurinoma Schwannoma http://www.w3.org/2004/02/skos/core#definition A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Neurilemmoma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009442 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Neurilemmosarcoma nif_obo_annot:synonym Neurilemoma nif_obo_annot:synonym Neurinoma nif_obo_annot:synonym Schwannoma nif_obo_annot:usageNote May be benign or malignant. NIF_Dysfunction:birnlex_12604 Neurofibroma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Neurofibroma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009455 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1016 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:usageNote May be benign or malignant. NIF_Dysfunction:birnlex_12605 Neurofibromatosis birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Multiple Neurofibromas Neurofibromatosis Syndrome http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neurofibromatosis nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D017253 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1016 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Multiple Neurofibromas nif_obo_annot:synonym Neurofibromatosis Syndrome nif_obo_annot:usageNote May be benign or malignant. NIF_Dysfunction:birnlex_12606 Neurofibroma, Plexiform birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Elephantiasis Neuromatosis Pachydermatocele Tumor Royale http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neurofibroma, Plexiform nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D018318 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Elephantiasis Neuromatosis nif_obo_annot:synonym Pachydermatocele nif_obo_annot:synonym Tumor Royale NIF_Dysfunction:birnlex_12607 Neurofibromatosis 1 birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Neurofibromatosis I Neurofibromatosis Type 1 Neurofibromatosis Type I Recklinghausen Disease of Nerve von Recklinghausen Disease http://www.w3.org/2004/02/skos/core#definition An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras ( RAS PROTEINS) (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Neurofibromatosis 1 nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009456 nif_obo_annot:acronym NF1 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, pp1014-18 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Neurofibromatosis I nif_obo_annot:synonym Neurofibromatosis Type 1 nif_obo_annot:synonym Neurofibromatosis Type I nif_obo_annot:synonym Recklinghausen Disease of Nerve nif_obo_annot:synonym von Recklinghausen Disease NIF_Dysfunction:birnlex_12608 Neurofibromatosis 2 birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Bilateral Acoustic Neurofibromatosis Bilateral Acoustic Neuroma Bilateral Acoustic Schwannoma Familial Acoustic Neuroma Neurofibromatosis II Neurofibromatosis Type 2 Neurofibromatosis Type II http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neurofibromatosis 2 nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D016518 nif_obo_annot:acronym NF2 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Bilateral Acoustic Neurofibromatosis nif_obo_annot:synonym Bilateral Acoustic Neuroma nif_obo_annot:synonym Bilateral Acoustic Schwannoma nif_obo_annot:synonym Familial Acoustic Neuroma nif_obo_annot:synonym Neurofibromatosis II nif_obo_annot:synonym Neurofibromatosis Type 2 nif_obo_annot:synonym Neurofibromatosis Type II NIF_Dysfunction:birnlex_12609 Neurofibrosarcoma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Neurogenic Sarcoma http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neurofibrosarcoma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D018319 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Neurogenic Sarcoma NIF_Dysfunction:birnlex_12610 Neuroma birnlex_anatomy A tumor made up of nerve cells and nerve fibers (MeSH). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition A tumor made up of nerve cells and nerve fibers (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Neuroma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D009463 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Stedman, 25th ed nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 NIF_Dysfunction:birnlex_12611 Neurothekeoma birnlex_anatomy A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath (MeSH). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Myxoma, Nerve Sheath Neurotheceoma Neurothecoma http://www.w3.org/2004/02/skos/core#definition A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Neurothekeoma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D018321 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Stedman, 25th ed nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Myxoma, Nerve Sheath nif_obo_annot:synonym Neurotheceoma nif_obo_annot:synonym Neurothecoma NIF_Dysfunction:birnlex_12612 Neuroectodermal Neoplasm birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Neuroectodermal Tumor http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Neuroectodermal Neoplasm nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D017599 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Neuroectodermal Tumor NIF_Dysfunction:birnlex_12613 Craniopharyngioma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Rathke Cleft Neoplasm Rathke Pouch Tumor http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Craniopharyngioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D003397 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Rathke Cleft Neoplasm nif_obo_annot:synonym Rathke Pouch Tumor NIF_Dysfunction:birnlex_12614 Adamantinous Craniopharyngioma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Craniopharyngioma, Child http://www.w3.org/2004/02/skos/core#definition 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://www.w3.org/2004/02/skos/core#prefLabel Adamantinous Craniopharyngioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D003397 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Craniopharyngioma, Child NIF_Dysfunction:birnlex_12615 Papillary Craniopharyngioma birnlex_anatomy Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Craniopharyngioma, Adult http://www.w3.org/2004/02/skos/core#definition Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Papillary Craniopharyngioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D003397 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Craniopharyngioma, Adult NIF_Dysfunction:birnlex_12616 Neuroepithelial Neoplasm birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Neuroepithelial Tumor http://www.w3.org/2004/02/skos/core#definition Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Neuroepithelial Neoplasm nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D018302 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Neuroepithelial Tumor NIF_Dysfunction:birnlex_12617 Ganglioneuroma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Gangliocytoma http://www.w3.org/2004/02/skos/core#definition A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Ganglioneuroma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D005729 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Gangliocytoma NIF_Dysfunction:birnlex_12618 Glioma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Glial Cell Tumor http://www.w3.org/2004/02/skos/core#definition Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Glioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D005910 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:nifID _8.3_10.1.1 nif_obo_annot:synonym Glial Cell Tumor NIF_Dysfunction:birnlex_12619 Astrocytoma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Astrocytic Glioma Astroglioma http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Astrocytoma http://www.w3.org/2004/02/skos/core#scopeNote Grades I-III go here, with pathol nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D001254 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Astrocytic Glioma nif_obo_annot:synonym Astroglioma nif_obo_annot:usageNote 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 NIF_Dysfunction:birnlex_12620 Glioblastoma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Astrocytoma, Grade IV Giant Cell Glioblastoma Glioblastoma Multiforme http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Glioblastoma http://www.w3.org/2004/02/skos/core#scopeNote for GLIOBLASTOMA, RETINAL see RETINOBLASTOMA nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D005909 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Astrocytoma, Grade IV nif_obo_annot:synonym Giant Cell Glioblastoma nif_obo_annot:synonym Glioblastoma Multiforme NIF_Dysfunction:birnlex_12621 Optic Nerve Glioma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Glioblastoma Multiforme Malignant Optic Nerve Astrocytoma Optic Glioma http://www.w3.org/2004/02/skos/core#definition Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH). http://www.w3.org/2004/02/skos/core#prefLabel Optic Nerve Glioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D020339 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Adams et al., Principles of Neurology, 6th ed, p681 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Glioblastoma Multiforme nif_obo_annot:synonym Malignant Optic Nerve Astrocytoma nif_obo_annot:synonym Optic Glioma NIF_Dysfunction:birnlex_12622 Ependymoma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Ependymoma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D004806 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:usageNote 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 NIF_Dysfunction:birnlex_12623 Subependymal Glioma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Subependymal Astrocytoma Subependymal Gliosis Subependymoma http://www.w3.org/2004/02/skos/core#definition 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). http://www.w3.org/2004/02/skos/core#prefLabel Subependymal Glioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_obo_annot:MeshUid D004806 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:definingCitation Clin Neurol Neurosurg 1997 Feb;99(1):17-22 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:synonym Subependymal Astrocytoma nif_obo_annot:synonym Subependymal Gliosis nif_obo_annot:synonym Subependymoma nif_obo_annot:usageNote 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 NIF_Dysfunction:birnlex_12624 Ganglioglioma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 http://www.w3.org/2004/02/skos/core#definition 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://www.w3.org/2004/02/skos/core#prefLabel Ganglioglioma nif_annot:hasBirnlexCurator http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#BillBug nif_annot:hasCurationStatus http://ontology.neuinfo.org/NIF/Backend/BIRNLex_annotation_properties.owl#uncurated nif_annot:putativeClassExtension Benign ganglioglioma nif_annot:putativeClassExtension Intracranial ganglioglioma nif_annot:putativeClassExtension Malignant ganglioglioma nif_obo_annot:MeshUid D018303 nif_obo_annot:createdDate 2007-10-05 nif_obo_annot:hasDefinitionSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource nif_obo_annot:hasExternalSource http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH nif_obo_annot:modifiedDate 2007-10-05 nif_obo_annot:usageNote MeSH includes qualified subtypes NIF_Dysfunction:birnlex_12625 Gliosarcoma birnlex_anatomy 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). URL http://ontology.neuinfo.org/NIF/Backend/OBO_annotation_properties.owl#MeSH_defSource 1 Glioblastoma with Sarcomatous Component Sarcomatous Glioma http://www.w3.org/2004/02/skos/core#definition Rare mixed tumors of the brain