|
X-linked dyskeratosis congenita
|
DOID_0070025 |
[A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.] |
|
aztreonam
|
CHEBI_161680 |
|
|
monobactam
|
CHEBI_50695 |
|
|
beta-lactam antibiotic allergen
|
CHEBI_88225 |
|
|
herb food product
|
FOODON_00003042 |
|
|
spice or herb
|
FOODON_00001242 |
|
|
autosomal dominant intellectual developmental disorder 3
|
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.] |
|
autosomal dominant intellectual developmental disorder 4
|
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.] |
|
autosomal dominant intellectual developmental disorder 1
|
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.] |
|
autosomal dominant intellectual developmental disorder 2
|
DOID_0070032 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24.] |
|
ITM2B-related cerebral amyloid angiopathy 2
|
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.] |
|
NESCAV syndrome
|
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.] |
|
autosomal dominant intellectual developmental disorder 7
|
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.] |
|
autosomal dominant intellectual developmental disorder 8
|
DOID_0070038 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3.] |
|
autosomal dominant intellectual developmental disorder 5
|
DOID_0070035 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32.] |
|
autosomal dominant intellectual developmental disorder 6
|
DOID_0070036 |
[An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1.] |
|
susceptibility to celiac disease 4
|
MIM_609753 |
|
|
susceptibility to celiac disease 3
|
MIM_609755 |
|
|
3-methylglutaconic aciduria type 8
|
DOID_0070000 |
[A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.] |
|
3-methylglutaconic aciduria
|
DOID_0060336 |
[An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.] |
