All terms in DOID

Label Id Description
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.]
pituicytoma DOID_0081280 [A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements.]
posterior pituitary gland neoplasm DOID_5048 [A pituitary gland benign neoplasm that arises from the neurohypophysis.]
oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 DOID_0081281 [An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).]
IDH-mutant and 1p/19q-codeleted oligodendroglioma DOID_0080882 [An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).]
oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 DOID_0081282 [An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.]
papillary glioneuronal tumor DOID_0081283 [A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae.]
food storage organ UBERON_0010039
desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma DOID_0081259 [A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells.]
ganglioglioma DOID_5078 [A cell type benign neoplasm that has_material_basis_in glial-type cells.]
posterior fossa group B ependymoma DOID_0081255 [A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.]
posterior fossa ependymoma DOID_0080889 [A high grade ependymoma that is located within the posterior fossa.]
astrocytoma, IDH-mutant, grade 2 DOID_0081256 [An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.]