All terms in DOID

Label Id Description
spotted fever group NCBITaxon_114277
Rickettsia japonica NCBITaxon_35790
peritoneal serous adenocarcinoma DOID_4901
peritoneal carcinoma DOID_1791 [A peritoneum cancer that is located_in the inside of the abdomen.]
obsolete mixed cell adenocarcinoma DOID_4900
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype DOID_0081277 [A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.]
infant-type hemispheric glioma DOID_0081278 [A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.]
diffuse astrocytoma, MYB- or MYBL1-altered DOID_0081279 [A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.]
diffuse astrocytoma DOID_4857 [A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures.]
Rickettsia helvetica NCBITaxon_35789
Rickettsia africae NCBITaxon_35788
susceptibility to asthma MIM_600807
Siddiqi syndrome DOID_0081273 [A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13.]
peroxisome biogenesis disorder 14B DOID_0081274 [A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21.]
peroxisomal biogenesis disorder DOID_0080377 [A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.]
neurodevelopmental disorder with eye movement abnormalities and ataxia DOID_0081275 [An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties.]
cerebellar atrophy, visual impairment, and psychomotor retardation DOID_0081276 [A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.]
Smith-McCort dysplasia 1 DOID_0081270 [A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.]
Smith-McCort dysplasia DOID_0060247 [A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest.]
Smith-McCort dysplasia 2 DOID_0081271 [A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.]