All terms in DOID

Label Id Description
autosomal recessive intellectual developmental disorder 2 DOID_0081178 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26.]
autosomal recessive intellectual developmental disorder 3 DOID_0081179 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13.]
susceptibility to atypical hemolytic uremic syndrome 2 MIM_612922
short stature, hearing loss, retinitis pigmentosa, and distinctive facies DOID_0081175 [A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34.]
susceptibility to atypical hemolytic uremic syndrome 3 MIM_612923
hypotonia, ataxia, and delayed development syndrome DOID_0081176 [A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26.]
susceptibility to atypical hemolytic uremic syndrome 4 MIM_612924
autosomal recessive intellectual developmental disorder 1 DOID_0081177 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25.]
susceptibility to atypical hemolytic uremic syndrome 5 MIM_612925
susceptibility to atypical hemolytic uremic syndrome 6 MIM_612926
autosomal recessive intellectual developmental disorder 16 DOID_0081189 [An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16.]
Toxocaridae NCBITaxon_33259
Ascaridoidea NCBITaxon_33256
Ascaridomorpha NCBITaxon_6249
autosomal recessive intellectual developmental disorder 12 DOID_0081180 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34.]
vitamin B12 FOODON_03413761 [An essential nutrient and natural water-soluble vitamin of the B-complex family that must combine with an intrinsic factor for absorption by the intestine, Vitamin B12 (cyanocobalamin) is necessary for hematopoiesis, neural metabolism, DNA and RNA production, and carbohydrate, fat, and protein metabolism. B12 improves iron functions in the metabolic cycle and assists folic acid in choline synthesis. B12 metabolism is interconnected with that of folic acid. Vitamin B12 deficiency causes pernicious anemia, megaloblastic anemia, and neurologic lesions.]
vitamin CHEBI_33229 [A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes.]
autosomal recessive intellectual developmental disorder 10/20 DOID_0081185 [An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus.]
autosomal recessive intellectual developmental disorder 11 DOID_0081186 [An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149.]
autosomal recessive intellectual developmental disorder 4 DOID_0081187 [An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3.]