All terms in DOID

Label Id Description
obsolete monomorphic PTLD DOID_6533
obsolete inborn errors fructose metabolism DOID_5205
congenital amegakaryocytic thrombocytopenia DOID_0090118 [A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers.]
acute erythroid leukemia DOID_0080780 [An acute myeloid leukemia that is characterized by a predominant immature erythroid population.]
fructose-1,6-bisphosphatase deficiency DOID_5204 [A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.]
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome DOID_0090119 [An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27.]
benign exocrine pancreas neoplasm DOID_0080781 [An endocrine organ benign neoplasm arising from the exocrine pancreas.]
monodermal teratoma DOID_5207 [An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm).]
obsolete benign struma ovarii DOID_5209 [An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue.]
maxillary sinus inverted papilloma DOID_7868
maxillary sinus benign neoplasm DOID_1358
malignant struma ovarii DOID_5208 [A struma ovarii that is cancerous.]
ovarian germ cell monodermal and highly specialized teratoma DOID_2641 [A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary.]
nasal type extranodal NK/T-cell lymphoma DOID_0080797 [A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.]
myeloid leukemia associated with Down Syndrome DOID_0080798 [An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene.]
sinonasal undifferentiated carcinoma DOID_0080799 [A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells.]
childhood acute megakaryoblastic leukemia DOID_0080794 [An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.]
acute basophilic leukemia DOID_0080795 [An acute myeloid leukemia that is characterized by primary differentiation to basophils.]
core binding factor acute myeloid leukemia DOID_0080796 [An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis.]
lethal congenital glycogen storage disease of heart DOID_0090101 [A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.]