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1,2,5,6,9,10-hexabromocyclododecane
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CHEBI_134063 |
[A bromoalkane consisting of cyclododecane bearing six bromo substituents at positions 1, 2, 5, 6, 9 and 10.] |
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APP-related cerebral amyloid angiopathy
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DOID_0070028 |
[A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.] |
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cerebral amyloid angiopathy
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DOID_9246 |
[An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.] |
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ITM2B-related cerebral amyloid angiopathy 1
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DOID_0070029 |
[A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14.] |
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Revesz syndrome
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DOID_0070026 |
[A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12.] |
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CST3-related cerebral amyloid angiopathy
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DOID_0070027 |
[A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21.] |
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autosomal recessive dyskeratosis congenita 6
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DOID_0070024 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.] |
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X-linked dyskeratosis congenita
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DOID_0070025 |
[A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.] |
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aztreonam
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CHEBI_161680 |
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monobactam
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CHEBI_50695 |
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beta-lactam antibiotic allergen
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CHEBI_88225 |
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herb food product
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FOODON_00003042 |
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spice or herb
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FOODON_00001242 |
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autosomal dominant intellectual developmental disorder 3
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DOID_0070033 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3.] |
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autosomal dominant intellectual developmental disorder 4
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DOID_0070034 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2.] |
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autosomal dominant intellectual developmental disorder 1
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DOID_0070031 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1.] |
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autosomal dominant intellectual developmental disorder 2
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DOID_0070032 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24.] |
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ITM2B-related cerebral amyloid angiopathy 2
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DOID_0070030 |
[A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.] |
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NESCAV syndrome
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DOID_0070039 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.] |
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autosomal dominant intellectual developmental disorder 7
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DOID_0070037 |
[An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13.] |
