All terms in DOID

Label Id Description
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.]
Sandestig-Stefanova syndrome DOID_0081272 [A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34.]
white sponge nevus 2 DOID_0081288 [A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21.]
white sponge nevus DOID_0050448 [A skin disease characterized by a defect in the normal process of keratinization of the mucosa.]
rosette-forming glioneuronal tumor DOID_0081284 [A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers.]
myxoid glioneuronal tumor DOID_0081285 [A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma.]
embryonal tumor with multilayered rosettes DOID_0081286 [A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation.]
central nervous system embryonal tumor DOID_0060103 [A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm.]
white sponge nevus 1 DOID_0081287 [A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13.]