All terms in DOID

Label Id Description
posterior fossa group A ependymoma DOID_0081254 [A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.]
oral gland UBERON_0010047
gland of digestive tract UBERON_0003408
gland UBERON_0002530
CIC-rearranged sarcoma DOID_0081250 [An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.]
EWSR1-negative small round cell tumor DOID_0081249 [A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm.]
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID_0081266 [A cortical dysplasia with other brain malformation that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.]
complex cortical dysplasia with other brain malformations DOID_0090131 [A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.]
graft-versus-host disease DOID_0081267 [An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.]
pulmonary venoocclusive disease 1 DOID_0081268 [A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33.]
pulmonary venoocclusive disease DOID_5453 [A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.]
pulmonary venoocclusive disease 2 DOID_0081269 [A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation.]
Candida NCBITaxon_5475
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID_0081262 [An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13.]
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID_0081263 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13.]
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome DOID_0081264 [A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R).]
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID_0081265 [An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.]
azole CHEBI_68452
monocyclic heteroarene CHEBI_38179
diffuse low-grade glioma, MAPK pathway–altered DOID_0081260 [A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.]