All terms in DOID

Label Id Description
lobe of cerebral hemisphere UBERON_0016526
Ancylostomatidae NCBITaxon_33278
Strongyloidea NCBITaxon_27829
temporal lobe UBERON_0001871
cerebral hemisphere UBERON_0001869
obsolete iris vascular disorder DOID_4800
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